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

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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.


Kristina S. Kulikova

Endocrinology Research Centre

Author for correspondence.
Email: kristinakulikova87@gmail.com
ORCID iD: 0000-0002-0434-9088
SPIN-code: 4931-5238
https://www.endocrincentr.ru/doctors/kulikova-kristina-sergeevna

Russian Federation, Dm.Ulyanova street, 117036 Moscow, Russia

Eugeny V. Vasiliev

Endocrinology Research Centre
 

Email: vas-evg@yandex.ru
ORCID iD: 0000-0003-1107-362X
SPIN-code: 5767-1569

Russian Federation, Dm.Ulyanova street, 117036 Moscow

Vasily M. Petrov

Endocrinology Research Centre

Email: petrov.vasiliy@gmail.com
ORCID iD: 0000-0002-0520-9132
SPIN-code: 4358-2147

Russian Federation, Dm.Ulyanova street, 117036 Moscow

Anatoly N. Tiulpakov

Endocrinology Research Centre

Email: ant@endocrincentr.ru
ORCID iD: 0000-0001-8500-4841
SPIN-code: 4358-2147
https://www.endocrincentr.ru/doctors/tyulpakov-anatoliy-nikolaevich

Russian Federation, Dm.Ulyanova street, 117036 Moscow

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