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Monozygotic Twins with Rare Genetic Mutation Diagnosed with X-Linked Hypophosphatemic Rickets

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Posted: July 1, 2025
A recent case study sheds light on the diagnostic challenges of X-linked hypophosphatemic rickets (XLH) in monozygotic twins, emphasizing the importance of early molecular testing in complex skeletal disorders. The 26-year-old male twins presented with classical XLH symptoms, including skeletal deformities, short stature, and chronic bone pain. Despite these hallmark features, misdiagnosis persisted for years, leading to functional impairment. Genetic analysis uncovered a novel de novo hemizygous deletion in the PHEX gene, confirming XLH. Initiation of traditional therapy with oral phosphate and calcitriol resulted in significant clinical improvement, highlighting the necessity of timely recognition and treatment to prevent irreversible complications and enhance long-term outcomes.

This unique case underscores the risk of delayed XLH diagnosis, especially in sporadic cases lacking familial history. Dental professionals should consider XLH in patients with skeletal abnormalities, short stature, and recurrent dental issues. The study emphasizes the significance of recognizing biochemical markers like isolated hypophosphatemia with inappropriately normal vitamin D levels for early identification of FGF23-mediated phosphate-wasting conditions. Genetic testing is crucial for confirming XLH, particularly in cases without a familial background, potentially revealing previously unreported mutations with clinical and research implications. Conventional therapy with phosphate and calcitriol can lead to substantial clinical benefits, even in adults with prolonged disease duration, emphasizing the potential for improved mobility and quality of life.

This groundbreaking case contributes to understanding genotype-phenotype correlations in XLH and highlights the relevance of twin studies in elucidating genetic and non-genetic disease modifiers. Dental practitioners should remain vigilant for XLH indicators, considering the variability in presentation that often leads to misdiagnosis as nutritional rickets or orthopedic conditions. By recognizing and addressing XLH promptly, clinicians can mitigate disease progression, prevent complications, and enhance patient outcomes, reinforcing the critical role of early intervention and accurate diagnosis in managing complex skeletal disorders.

This article summary was generated by AI. To view the full article, click the link here: https://pubmed.ncbi.nlm.nih.gov/40980824/

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