Phosphate diabetes: a clinical case of family hypophosphatemic rickets

Abstract

Objective. To describe the clinical picture of the course of hypophosphatemic rickets in two members of the same family. Phosphate diabetes is a rare hereditary pathology of mineral and bone metabolism.

Materials and methods. There is presented a clinical picture of the course of hypophosphatemic rickets in two members of the same family.

Results. According to the results obtained, there is a clear difference in the severity of the disease course depending on the sex. The child's mother had a course of the disease with a late onset and complications from the lower extremities, but the patient was able to bear and give birth to a child on her own. The boy had an early detection, early progression of complications of the skeletal system with visual impairment and neurological symptoms (headaches, intracranial hypertension).

Conclusions. The clinical example is relevant for practitioners. It is necessary to develop algorithms for monitoring the complications of phosphate diabetes and searching for pathogenetic therapy.

Keywords

Hypophosphatemic rickets / vitamin D / bone deformity / phosphate diabetes / family case

References

[1] Yasonov S.A. Syndromic craniosynostoses: main clinical manifestations and modern possibilities of rehabilitation. Pediatrics 2012; 5: 114–119 (in Russian).

[2] Ясонов С.А. Синдромальные краниосиностозы: основные клинические проявления и современные возможности реабилитации. Педиатрия 2012; 5: 114–119.

[3] Kuznetsova S.Yu.., Novikov P.V., Proshlyakova T. Ju., Zaharova E.Ju. Hypophosphatemic rickets in children. Russian Vestnik of Perinatology and Pediatrics 2013; 4: 14–19 (in Russian).

[4] Кузнецова С.Ю., Новиков П.В., Прошлякова Т.Ю., Захарова Е.Ю. Гипофосфатемический рахит у детей. Российский вестник перинатологии и педиатрии 2013; 4: 14–19.

[5] Tankevich Z.A., Sukalo A.A. Rakhik-like diseases in children. Pediatrics 2010; 3: 5–12 (in Russian).

[6] Танкевич З.А., Сукало А.А. Рахитоподобные заболевания у детей. Педиатрия 2010; 3: 5–12.

[7] Kulikova K.S. Tyulpakov A.N. Hypophosphatemic rickets: pathogenesis, diagnosis and treatment. Obesity and metabolism 2018; 2: 48–56 (in Russian).

[8] Куликова К.С. Тюльпаков А.Н. Гипофосфатемический рахит: патогенез, диагностика и лечение. Ожирение и метаболизм 2018; 2: 48–56.

[9] Vasilyeva T.G. Features of calcium and phosphorus metabolism in wounded children. Vestnik of the Russian Academy of Sciences 2006; 2: 91–95 (in Russian).

[10] Васильева Т.Г. Особенности обмена кальция и фосфора у детей раненого возраста. Вестник РАН 2006; 2: 91–95.

[11] Adibaeva G.Zh. Hereditary Tubulopathies: Phosphate-Diabetes. Vestnik AGIUV 2013; 1: 12–13 (in Russian).

[12] Адибаева Г.Ж. Наследственные Тубулопатии: фосфат-диабет. Вестник АГИУВ 2013; 1: 12–13.

[13] Proshlyakova T.Yu. Korotkaya T.S., Kuznetsova S.Yu. Comparative characteristics of rickets-like diseases. Russian Vestnik of Perinatology and Pediatrics 2018; 3: 19–25 (in Russian).

[14] Прошлякова Т.Ю. Короткая Т.С., Кузнецова С.Ю. Сравнительная характеристика рахитоподобных заболеваний. Российский вестник перинатологии и педиатрии 2018; 3: 19–25.

RIGHTS & PERMISSIONS

Eco-Vector