Understanding Vitamin D Resistant Rickets
Intro
Vitamin D resistant rickets (VDDR) presents a unique challenge in the landscape of metabolic bone diseases. This condition is defined by the inadequate mineralization of bones, despite sufficient levels of vitamin D in the body. It raises important questions around the interplay of genetics, environmental factors, and the biological processes that underpin bone health.
Understanding VDDR not only allows for a deeper comprehension of rickets but also sheds light on the broader implications for bone health across diverse populations. By addressing the complexity of this disorder, health professionals can better support those affected and potentially influence future research directions.
Research Background
Overview of the Scientific Problem Addressed
Vitamin D plays a crucial role in calcium and phosphate metabolism, both of which are essential for maintaining bone health. Traditional rickets, primarily induced by vitamin D deficiency, is commonly understood and treated. However, VDDR complicates this picture due to its genetic basis. Patients can have normal or even elevated serum vitamin D levels, yet they still exhibit the classic signs of rickets, such as bone pain, deformities, and growth retardation.
Through the examination of genetic mutations and established diagnostic criteria, it becomes apparent that VDDR is a significant area deserving progress in the field of pediatric endocrinology and genetics.
Historical Context and Previous Studies
Historically, rickets was predominantly viewed through the lens of nutritional deficiencies. Notable studies in the early 20th century laid the groundwork for understanding vitamin D's role in bone health. Over time, the realization that some cases of rickets did not respond to vitamin D supplementation led to the identification of VDDR. Researchers identified specific genetic mutations, such as those affecting the vitamin D receptor and related enzymes, providing clarity on the hereditary nature of this condition. This shift in understanding propelled further studies, focusing not just on clinical symptoms but also on genetic determinants and their implications for treatment.
Findings and Discussion
Key Results of the Research
Recent investigations have provided insights into the various genetic mutations associated with VDDR. Among these, mutations in the VDR gene, which encodes the vitamin D receptor, are particularly significant. Other noteworthy findings have been linked to genes involved in the transport and metabolism of vitamin D, further emphasizing the complex genetic landscape of this disorder.
A growing body of evidence suggests that, in addition to genetic factors, environmental influences play a role in the severity of VDDR. Factors such as geographical location, sunlight exposure, and dietary habits contribute to individual outcomes, underscoring the need for tailored approaches in management.
Interpretation of the Findings
The interaction between genetic determinants and environmental factors creates a multifaceted picture. Understanding how these elements contribute to bone health is essential for developing effective clinical strategies. Diagnosis often involves specific genetic tests, while treatment can include a combination of calcium, phosphate, and calcitriol therapy rather than relying solely on vitamin D supplementation.
The nuance of VDDR reinforces the importance of comprehensive patient assessments when addressing metabolic bone disorders.
The challenges faced in managing VDDR extend beyond treatment protocols to include the necessity for ongoing research. Investigation into less common genetic variants and the development of novel therapeutic approaches are vital for enhancing patient care. Addressing these factors can pave the way toward improved outcomes for individuals grappling with this complex condition.
Prelims to Vitamin Resistant Rickets
Understanding vitamin D resistant rickets is vital to grasp how deficiencies in bone health can persist despite apparent adequate vitamin D levels. This condition complicates the traditional understanding of rickets, typically seen as a result of vitamin D deficiency. Hence, it raises pertinent questions on the physiological processes involved in bone mineralization.
This section sets the stage for comprehending the complexities surrounding vitamin D resistant rickets. We will explore its definition and scope, alongside the critical role of vitamin D in maintaining healthy bones. Addressing these areas establishes a foundational knowledge essential for the exploration of related topics in the article.
Definition and Scope
Vitamin D resistant rickets, often abbreviated as VDDR, refers to a rare disorder marked by a failure of the body to properly utilize vitamin D. This can occur despite sufficient levels present in the bloodstream. The disruption primarily affects bone mineralization, leading to weak bones and deformities.
The classification of VDDR varies based on the underlying cause, which can be genetic or acquired. Genetic variations may alter how the body interprets vitamin D signals, inhibiting the production of calcitriol, which is crucial for calcium absorption. Thus, while vitamin D is plentiful, its efficacy diminishes, resulting in the characteristic symptoms of rickets.
In summary, a clear definition of VDDR aids in establishing its significance within the broader conversation of bone health and metabolism, emphasizing the need for precise diagnosis and tailored treatment approaches.
Importance of Vitamin in Bone Health
Vitamin D plays a fundamental role in bone health by facilitating the absorption of calcium and phosphate, essential minerals that contribute to bone composition and strength. Adequate levels of vitamin D ensure that bones remain dense and resilient. Without punctuating their influences, VDDR highlights the paradox of having ample vitamin D without the accompanying strength in bone structure.
The ramifications of inadequate mineralization are notable. Individuals with VDDR can experience several complications, including skeletal deformities and delayed growth. This results in far-reaching impacts not only physically, but also psychologically and socially.
In essence, understanding the importance of vitamin D formulations in the context of rickets offers valuable insights into preventive and therapeutic strategies. It also underscores why initial assessments of vitamin D levels are crucial in addressing the challenges posed by VDDR.
Pathophysiology of Vitamin Resistant Rickets
Understanding the pathophysiology of Vitamin D resistant rickets (VDDR) is crucial for identifying the underlying mechanisms that lead to this disorder. This section delves into how vitamin D operates within the body, the peculiar resistance mechanisms observed in VDDR patients, and how these factors collectively impact bone health.
Role of Vitamin in Calcitriol Metabolism
Vitamin D is essential for bone health, primarily through its active form, calcitriol. In normal physiology, vitamin D undergoes a series of transformations. First, it is converted in the liver to calcidiol. Later, the kidneys convert calcidiol into calcitriol, the biologically active hormone. This active form regulates calcium and phosphorus metabolism, which is vital for bone mineralization. When there is a defect in either the synthesis of calcitriol or its action, as seen in VDDR, the result is ineffective mineralization of bones despite adequate dietary intake of vitamin D.
Mechanisms of Resistance
Resistance in VDDR can arise from a variety of factors. One significant aspect is the genetic mutations that disrupt vitamin Dβs pathway from absorption to utilization. Patients with VDDR often demonstrate mutations in the vitamin D receptor (VDR), leading to impaired cellular responses to calcitriol. Other contributing factors include altered enzyme activity, resulting in decreased conversion rates of calcidiol to calcitriol. The mechanisms of resistance vary among individuals and highlight the complexity of this condition.
Impact on Bone Mineralization
The impact of VDDR on bone mineralization can be quite pronounced. Since mineralization is heavily reliant on adequate amounts of calcium and phosphorus, any disruption due to insufficient availability of calcitriol can lead to rickets. Patients may exhibit bone pain, tenderness, and deformities as a result of weakened bone structure. The effects of VDDR not only influence physical aspects but also have longer-term implications for growth and overall development.
Understanding these mechanistic details is essential for advancing treatment strategies for VDDR.
In summary, the pathophysiology of vitamin D resistant rickets revolves around the dysfunction of vitamin D metabolism, resistance mechanisms, and the resultant effects on bone health. These intricacies form the foundation for further exploration into genetic influences and clinical implications.
Genetic Factors Influencing VDDR
Understanding the genetic factors influencing vitamin D resistant rickets (VDDR) is what this section aims to illuminate. Genetic components are crucial for diagnosing and managing this disorder, as they often determine how patients metabolize vitamin D and respond to treatment. By dissecting both genetic mutations and inheritance patterns, we can uncover how these elements are intertwined with the clinical outcomes of VDDR. This knowledge also reinforces the importance of genetic testing in understanding individual cases and tailoring treatment strategies accordingly.
Genetic Mutations and Inheritance Patterns
The foundation of VDDR often lies in genetic mutations. These mutations can affect various biological processes, including vitamin D metabolism. The inheritance patterns of these mutations can be autosomal recessive or, less commonly, autosomal dominant. For example, defective genes may hinder the body's ability to convert vitamin D into calcitriol, resulting in a resistance to its effects.
Among the known mutations, those in the CYP27B1 and VDR genes play significant roles. CYP27B1 is responsible for converting vitamin D into its active form. When mutated, vitamin D's efficacy decreases, leading to symptoms of rickets despite seemingly adequate vitamin D levels.
Key Genes Associated with VDDR
Several key genes are associated with VDDR, and understanding these can aid in diagnosis and treatment planning. Some prominent ones include:
- CYP27B1: This gene encodes an enzyme critical for converting vitamin D into calcitriol.
- VDR: The vitamin D receptor gene is crucial for mediating the effects of calcitriol after its formation.
- SLC34A1: This gene affects phosphate transport in the kidneys, influencing overall mineralization of bones.
Mutations in these genes can manifest as a spectrum of clinical signs, emphasizing the need for comprehensive genetic screening in patients who present with rickets.
Case Studies of Genetic Variants
Examining case studies provides enlightening insights into how genetic variants contribute to the clinical picture of VDDR. In one notable instance, a child with rickets and normal serum vitamin D levels was found to possess a mutation in the VDR gene. This mutation hindered the binding of calcitriol to its receptor, demonstrating how specific genetic changes lead to rickets despite adequate vitamin D.
Another case highlighted a familial pattern of VDDR linked to mutations in CYP27B1, further corroborating the significance of genetic testing in familial cases of this disorder. Such case studies underline the necessity of recognizing the genetic underpinnings in diagnosing and customizing treatment for patients presenting with vitamin D resistant rickets.
Clinical Presentation and Diagnosis
The clinical presentation and diagnosis of Vitamin D Resistant Rickets (VDDR) are pivotal in managing this complex disorder. Understanding the symptoms and diagnostic criteria is crucial for early detection. VDDR is not merely a vitamin deficiency; it is a manifestation of underlying genetic issues that compromise bone health. Recognizing the signs can lead to timely interventions, improving patient outcomes.
Clinical Symptoms of VDDR
Symptoms of VDDR can vary widely but commonly include:
- Bone Pain and Tenderness: Patients often experience discomfort in the bones, which can significantly affect quality of life.
- Skeletal Deformities: Commonly observed are bowing of the legs and a widened ribcage. These changes can be visually striking and are indicative of the disorder.
- Delayed Motor Development: Children may show delays in achieving developmental milestones, such as sitting or walking. This aspect is crucial for early identification.
- Muscle Weakness: Many affected individuals display muscular weakness, further impacting mobility and functional independence.
It's essential to remember that these symptoms can be subtle in some patients, making thorough clinical evaluation imperative.
Diagnostic Criteria for VDDR
Diagnosis involves a combination of clinical assessments and laboratory tests. Key criteria include:
- Family History: A detailed family medical history may reveal patterns of hereditary conditions associated with VDDR.
- Biochemical Assessment: Testing serum levels of 25-hydroxyvitamin D, calcium, and phosphorus is essential. Even if vitamin D levels are adequate, the presence of rickets can indicate VDDR.
- Genetic Testing: Identification of mutations in key genes can confirm diagnosis. Genetic testing serves as a powerful tool in understanding specific variants related to VDDR.
Early and accurate diagnosis is vital. It prevents unnecessary treatments that may arise from misdiagnosis, ensuring that patient care is appropriately aligned with the specific type of rickets.
Differential Diagnosis
Given the overlap in symptoms with other conditions, differential diagnosis is crucial. Conditions to consider include:
- Nutritional Rickets: Caused by dietary deficiencies of vitamin D, calcium, or phosphate. This diagnosis is ruled out through appropriate blood tests.
- Osteogenesis Imperfecta: A genetic disorder affecting bone strength and fragility must be distinguished from VDDR, as its management differs markedly.
- Hypophosphatemic Rickets: A condition characterized by low phosphorus levels; understanding the specific biochemical profile of patients is essential for differentiation.
- Skeletal Dysplasias: Distinct skeletal disorders can mimic the presentation of rickets, necessitating advanced imaging techniques for accurate assessment.
Ensuring a differential diagnosis enhances treatment efficacy. A precise clinical approach can guide researchers and practitioners in developing targeted therapies and management plans.
In summary, the clinical presentation and diagnostic processes are critical to addressing Vitamin D Resistant Rickets. A multi-faceted evaluation encompassing clinical symptoms, biochemical testing, and genetic insights helps tailor treatments and improve outcomes.
Treatment Strategies for VDDR
Treatment strategies for Vitamin D resistant rickets (VDDR) hold significant importance in addressing the unique challenges posed by this condition. VDDR is characterized by the inability of the body to utilize vitamin D effectively, resulting in impaired bone mineralization. Thus, understanding and implementing effective treatment strategies is critical for improving patient outcomes. Treatment approaches must be tailored based on individual patient needs, genetic background, and the severity of symptoms. The need for multidisciplinary care, encompassing dietary, pharmacological, and supportive strategies, is vital in the management of this condition.
Current Therapeutic Approaches
The management of VDDR generally involves several therapeutic approaches aimed at addressing the underlying metabolic dysfunctions. Among these, the administration of calcitriol, the active form of vitamin D, is a cornerstone treatment. Calcitriol helps in promoting calcium and phosphate absorption in the intestines, which are crucial for bone health.
In addition to calcitriol, high doses of calcium and phosphate supplements might be necessary. These supplements help to overcome the resistance seen in VDDR, enabling better mineralization despite the ongoing issues. Continuous monitoring of serum calcium, phosphate levels, and bone health is essential to adjust dosages as needed.
Some patients may require additional interventions, such as bisphosphonates, which can help to improve bone density. Regular follow-ups with health care professionals are essential to ensure that intervention is effective and that bone development remains on track.
Innovative Treatment Modalities
Research is ongoing to explore innovative treatment modalities for VDDR. Genetic therapies represent an exciting frontier; by targeting the specific genetic mutations associated with this disorder, it might be possible to correct the underlying cause. Gene therapy could potentially restore normal vitamin D metabolism in affected individuals, offering a more definitive solution than existing symptomatic treatment.
Furthermore, advances in pharmacotherapy, including the use of newer vitamin D analogs, may provide additional options for patients. These analogs can sometimes bypass the resistance mechanisms observed in classic VDDR, enhancing therapeutic efficacy.
Beyond medication, physical therapy and orthopedic interventions play a role in improving mobility and managing skeletal deformities resulting from prolonged mineralization defects. Ensuring a holistic treatment approach addresses both the biochemical and functional aspects of VDDR.
Challenges in Management
Despite advancements in treatment strategies, several challenges remain in the management of VDDR. One prominent issue is individual variability in response to treatment, which can be influenced by factors such as genetic background and concurrent health issues. Adjusting treatment plans can be cumbersome and requires close monitoring.
Public health awareness surrounding vitamin D and its role in bone health is not uniformly strong, leading to potential delays in diagnosis and treatment. Furthermore, the rarity of VDDR means that many healthcare providers may lack experience in recognizing and managing the condition effectively.
Access to specialized care and treatment resources may also be limited in certain geographical locations, impacting patient outcomes negatively. Ongoing education for healthcare providers and increased awareness among the public is vital in overcoming these barriers to effective management of VDDR.
Nutritional Considerations
Nutritional factors play a vital role in the management of Vitamin D Resistant Rickets (VDDR). Understanding these factors helps in crafting comprehensive treatment strategies. Adequate nutrition can significantly influence bone health and overall well-being in affected individuals. One key area of focus is ensuring sufficient intake of vitamin D, through both diet and supplementation. This is crucial since individuals with VDDR have impaired utilization of vitamin D, even if they consume it adequately.
Dietary Sources of Vitamin
Vitamin D can be obtained from various dietary sources, which are essential to consider for individuals at risk of vitamin D deficiency. Foods rich in vitamin D include:
- Fatty Fish: Salmon, mackerel, and sardines are high in vitamin D, contributing to improved levels of this nutrient in the body.
- Egg Yolks: Eggs are a good source. Including the yolk is necessary as the vitamin is concentrated there.
- Fortified Foods: Many products, such as milk, orange juice, and cereals, are fortified with vitamin D, making them beneficial for individuals with dietary restrictions.
- Beef Liver: This organ meat is also rich in vitamin D but should be consumed in moderation due to high cholesterol content.
Incorporating these food items into the daily diet can help improve vitamin D status. However, the absorption of nutrients varies by individual and may require tailoring based on specific needs and genetic factors.
Supplementation Protocols
For those with VDDR, dietary intake alone may not suffice. Effective supplementation is often necessary to achieve optimal vitamin D levels. Consultation with healthcare professionals is critical for developing appropriate supplementation protocols. Important considerations include:
- Form of Supplement: Vitamin D3 (cholecalciferol) is often recommended due to its effectiveness in raising serum vitamin D levels.
- Dosage: Dosage should be personalized based on blood levels and individual response. Regular monitoring can guide adjustments.
- Frequency: Some might benefit from weekly doses, while daily supplementation may be necessary for others.
Adherence to supplementation should also take into account possible side effects. It is crucial to balance vitamin D intake to prevent toxicity, which can lead to harmful outcomes such as hypercalcemia.
Epidemiology and Population Impact
Understanding the epidemiology of Vitamin D Resistant Rickets (VDDR) is critical for identifying its prevalence as well as its broader implications for public health. Epidemiological studies provide insights into demographic trends, risk factors, and the distribution of this rare disorder. This information is crucial for healthcare professionals, researchers, and policy-makers. It can guide preventive measures and optimize management and treatment strategies.
Prevalence of Vitamin Resistant Rickets
The prevalence of VDDR can vary significantly across different population groups. While overall cases are low compared to classic rickets caused by vitamin D deficiency, certain populations may exhibit higher rates, often related to genetic factors. Reports suggest that VDDR occurs more frequently in regions or families where consanguineous marriages are common. This genetic predisposition is significant since it emphasizes the need for targeted screening in at-risk populations.
Additionally, estimating prevalence can inform public health policies. For instance, recognizing that VDDR presents primarily in specific ethnic backgrounds can lead to focused educational campaigns on vitamin D requirements and genetic testing.
For instance, available studies indicate that the prevalence of various forms of VDDR, particularly those associated with genetic mutations, might range between 1 in 100,000 to 8 in 100,000 individuals, emphasizing its rarity yet importance in the context of genetic diseases.
Geographical Distributions and Trends
Geographical trends in VDDR highlight how environmental and cultural factors influence its occurrence. Certain areas with less sunlight receive lower vitamin D synthesis, increasing the risk of rickets. Furthermore, regions with a high prevalence of specific gene mutations show concentrated cases of VDDR.
For instance, certain gene mutations associated with VDDR, like those in the VDR gene, have a higher frequency in populations from regions such as the Middle East and parts of South Asia.
"Public health data indicates that genetic counseling and screening could significantly improve management in these areas."
Tracking these geographical trends can help in developing targeted health strategies, aimed at educating high-risk communities. Furthermore, as lifestyle changes impact dietary intake of Vitamin D, ongoing research is vital to understand how such shifts affect VDDR prevalence. Longitudinal studies can provide deeper insights into how socioeconomic, cultural, and environmental shifts transform the demography of VDDR over time.
In summary, the epidemiology of Vitamin D Resistant Rickets highlights the importance of understanding its prevalence and trends across different populations. Such insights can inform public health approaches and aid in better managing this complex condition.
Long-term Outcomes and Prognosis
Understanding the long-term outcomes and prognosis of Vitamin D resistant rickets (VDDR) is essential for both management and patient quality of life. Children diagnosed with VDDR often face a range of challenges that can affect their growth and development. Identifying the long-term implications can aid healthcare professionals in developing tailored strategies to support affected individuals.
Impact on Growth and Development
The impact of VDDR on growth and development is significant. Children with this condition may exhibit growth retardation due to impaired bone mineralization. As bone density is critical during the growth phases, the failure to achieve adequate mineralization may lead to skeletal deformities.
Additionally, children can suffer from physical limitations. This can affect their motor skills and overall mobility, leading to challenges in social integration and physical education activities. The psychological component should not be overlooked either; children may experience low self-esteem due to their physical appearance and limitations.
Thus, the long-term prognosis must involve not just medical management but also a multidisciplinary approach addressing physical therapy and psychological support. Regular assessments are needed to monitor growth patterns, ensuring timely interventions to mitigate developmental delays.
Monitoring and Follow-Up Care
Continuous monitoring and follow-up care are crucial components in managing patients with VDDR. Healthcare providers must regularly assess the status of bone mineralization and overall health to determine the effectiveness of treatment strategies.
The following are key points to consider regarding the monitoring process:
- Regular Vitamin D Levels Testing: Monitoring serum levels of 25-hydroxyvitamin D can help understand the efficacy of supplementation and dietary strategies implemented.
- Bone Density Evaluations: Using dual-energy X-ray absorptiometry (DEXA) scans can provide insights into bone density over time.
- Growth Monitoring: Tracking growth metrics against standard growth charts helps in assessing developmental progress.
- Nutritional Assessments: Regular evaluations of dietary intake ensure that patients are receiving adequate levels of calcium, vitamin D, and other necessary nutrients.
Current Research and Future Directions
Current research in Vitamin D resistant rickets (VDDR) is critical for several reasons. This condition, marked by ineffective utilization of vitamin D and affected bone mineralization, presents unique challenges. Therefore, ongoing research aims for deeper insight into varied aspects such as genetic implications, new treatment options, and overall advancements in management strategies.
Emerging studies are crucial as they attempt to elucidate the intricate pathophysiological mechanisms behind VDDR. There is a growing emphasis on the need for individualized treatment, understanding that one-size-fits-all approaches may not suffice. By focusing on areas such as genetic variances and enzyme functions, researchers can develop tailored therapeutic strategies, enhancing patient outcomes. Furthermore, the exploration of potential preventative measures through nutritional adjustments or lifestyle modifications could also play an important role.
Emerging Research Topics in VDDR
Recent investigations have highlighted several emerging research topics that promise to advance the understanding of VDDR. One significant area includes the role of genetic screening. Identifying specific genetic mutations can provide critical insights into patient-specific treatment pathways. Moreover, studies are increasingly focusing on the interplay between environmental factors and genetic predispositions, examining how these elements together can shape the severity and expression of VDDR.
Another important research focus is the impact of vitamin D metabolism at a cellular level. Understanding how various genetic mutations affect calcitriol synthesis is paramount, as it could lead to novel therapeutic interventions. The development of animal models that mimic VDDR may also allow for more in-depth studies regarding disease progression and treatment efficacy.
Potential for Genetic Therapy
The potential for genetic therapy in managing VDDR is an exciting frontier. As the understanding of genetic mutations associated with this disorder increases, targeted gene therapies could emerge as viable options in treatment. These therapies might include approaches such as gene editing, which could correct faulty genes responsible for vitamin D metabolism dysfunctions.
Moreover, advancements in delivery mechanisms for genetic therapies will be essential. Techniques such as CRISPR-Cas9 may allow for precise modifications in the genetic code, potentially alleviating symptoms and reducing long-term complications associated with VDDR. As researchers continue to expand their knowledge and capabilities in this arena, the integration of genetic therapies into clinical practice may become a promising reality for improving the lives of individuals affected by Vitamin D resistant rickets.
Ongoing research not only sheds light on VDDR's complexities but also opens avenues for future innovations in treatment and management. By bridging the gap between molecular genetics and clinical therapies, we can aspire for improved patient outcomes and quality of life.
Ending
The conclusion serves as a critical summation of the essential elements surrounding vitamin D resistant rickets (VDDR). It emphasizes the intricate relationship between genetic factors and clinical outcomes, showcasing how a complex interplay of variables can manifest in this rare disorder. Understanding VDDR goes beyond merely identifying symptoms or treatment methodologies; it involves a deeper examination of the underlying causes and potential long-term consequences.
Summary of Key Insights
In reviewing the complexities of VDDR, several key insights emerge:
- Vitamin D Levels Do Not Equal Bone Health: Patients can exhibit adequate vitamin D levels yet still experience rickets due to the inability of the body to metabolize this vitamin effectively.
- Genetic Mutations Play a Major Role: Genetic factors are pivotal in determining susceptibility to VDDR. Mutations in specific genes can disrupt the pathway of calcitriol metabolism, leading to impaired bone mineralization.
- Need for Comprehensive Diagnosis: Identifying VDDR requires a multifaceted approach that integrates clinical symptoms, biochemical findings, and genetic testing to ensure accurate diagnosis and treatment.
- Innovative Treatment Modalities Are Emerging: While traditional treatments focus on vitamin D supplementation, innovative therapies are being researched to address the genetic aspects of the disorder.
Call for Increased Awareness and Research
Awareness of vitamin D resistant rickets is sorely needed within both the medical community and the general public. Increasing understanding can lead to earlier diagnosis, which significantly enhances the quality of life for affected individuals.
- Educational Initiatives: Efforts to educate healthcare professionals and caregivers about the signs and symptoms of VDDR can facilitate timely interventions.
- Research Opportunities: There is a necessity for further research into genetic therapies that can target the mutations responsible for VDDR. Such knowledge may pave the way for personalized medicine approaches.
- Collaboration Among Disciplines: Engaging a multidisciplinary approach that combines insights from genetics, nutrition, and clinical practice is crucial to advance understanding and treatment of VDDR.
"Increasing awareness and understanding of vitamin D resistant rickets is not just beneficial for patients, but also pivotal for advancements in medical research and treatment options."
