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Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 gene in child from Russia

https://doi.org/10.14341/pm9661

Abstract

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disorder characterized of renal phosphate wasting and rickets/osteomalacia. ADHR is caused by mutations in a circulating peptide, fibroblast growth factor 23 (FGF23). The clinical manifestations depend on the age of patients and the importance of hypophosphatemia. In childhood, clinical manifestations are rickets with lower extremity deformities. In adult onset, it can cause osteomalacia, osteoporosis, bone pain, tiredness. ADHR displays incomplete penetrance and variability in age of onset of clinical features. Biochemical and hormonal markers of the disease are hypophosphatemia, hyperphosphaturia, increased alkaline phosphatase level and a normal level of 1,25(OH) 2D. We present the first report a baby with ADHR from Russia which one was found heterozygous for the R179Q mutation in FGF23 gene.

About the Authors

Kristina S. Kulikova
https://www.endocrincentr.ru/doctors/kulikova-kristina-sergeevna

Endocrinology Research Centre


Russian Federation

Competing Interests:

Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи.



Eugeny V. Vasiliev

Endocrinology Research Centre

 


Russian Federation

Competing Interests:

Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи.



Vasily M. Petrov

Endocrinology Research Centre


Russian Federation

Competing Interests:

Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи.



Anatoly N. Tiulpakov
https://www.endocrincentr.ru/doctors/tyulpakov-anatoliy-nikolaevich

Endocrinology Research Centre


Russian Federation

Competing Interests:

Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи.



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For citation:


Kulikova K.S., Vasiliev E.V., Petrov V.M., Tiulpakov A.N. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 gene in child from Russia. World Journal of Personalized Medicine. 2018;2(1):5-9. (In Russ.) https://doi.org/10.14341/pm9661

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ISSN 2587-733X (Online)