nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2021-25-3-52-60nefr-1975Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESОрфанный наследственный гипофосфатемический рахит с гиперкальциурией, нефрокальцинозом вследствие мутации гена SLC34A3(обзор литературы и клиническое наблюдение)Orphanic hereditary hypophosphatemic rachit with hypercalciuria, nephrocalcinosis on account of mutation gene SLC34A3(Review and case report)https://orcid.org/0000-0002-5881-0124ЛевиашвилиЖ. Г.LeviashviliZh. G.

 Левиашвили Жанна Гавриловна, д-р мед. наук, проф. кафедра факультетской педиатрии

194100, Санкт-Петербург, ул. Литовская, д. 2.

 Тел.: (812)4165266

Prof. Leviashvili Zhanna Gavrilovna, MD, PhD, PROF.DMedSciAffiliations, Head of the Department of Faculty Pediatrics

194100, St. Petersburg, Litovskaya d. 2.

Phone: (812) 4165286

Jannalevi@gmail.comhttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

 Савенкова Надежда Дмитриевна, д-р мед. наук, проф., заведующая кафедрой факультетской педиатрии

194100, Санкт-Петербург, ул. Литовская, д. 2.

Тел.: (812)4165286

Prof. Savenkova Nadezhda Dmitrievna, MD, PhD, DMedSciAffiliations, Head of the Department of faculty pediatrics.

194100, St-Petersburg, Litovskaya st., 2. 

Phone: (812)4165286

Savenkova.n.spb@mail.ruhttps://orcid.org/0000-0003-0518-0445ЛюбимоваО. В.LyubimovaO. V.

Любимова Ольга Викторовна, нефрологическое отделение клиники университета, врач-ординатор

194100,  Санкт-Петербург, ул. Литовская, д. 2.

 

Lyubimova Olga Viktorovna, MD, Head of the Nephrology Department of the University Clinic Affiliations

194100, Saint Petersburg, Litovskaya str., 2

ovl1312@mail.ruhttps://orcid.org/0000-0002-8616-2849ЛевиН. Л.LeviN. L.

Леви Нази Львовна, кафедра факультетской педиатрии, старший медицинский лаборант

194100, Санкт-Петербург, ул. Литовская, д. 2. 

 

Levi Nazi Lvovna Senior Affiliations, Department of Faculty Pediatrics, Medical Laboratory Assistant

194100, Saint Petersburg, Litovskaya str., 2. 

nazilevi@gmail.comhttps://orcid.org/0000-0002-7998-2849АмирянМ. О.AmiryanM. О.

Амирян Маргарита Оганесовна, кафедра факультетской педиатрии, старший медицинский лаборант

194100,  Санкт-Петербург, ул. Литовская, д. 2.

Тел.:+7(812)416-52-86; 

Amiryan Margarita Oganesovna, MD Affiliations, Department of Faculty Pediatrics, Senior Medical Laboratory Assistant

194100,  St.Petersburg, Litovskaya st. 2. 

Ritysic@inbox.ruhttps://orcid.org/0000-0001-6723-247XКарповаТ. В.KarpovaT. V.

Карпова Татьяна Викторовна, нефрологическое отделение клиники университета, зав. отделением

194100,  Санкт-Петербург, ул. Литовская, д. 2.

Karpova Tatiana Victorovna, MD, Head of the Nephrology Unite of the University Clinic, hea

194100, St. Petersburg, Litovskaya str., 2. 

Tatmed19@ya.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation2021220420212535260Copyright © Левиашвили Ж.Г., Савенкова Н.Д., Любимова О.В., Леви Н.Л., Амирян М.О., Карпова Т.В., 20212021Левиашвили Ж.Г., Савенкова Н.Д., Любимова О.В., Леви Н.Л., Амирян М.О., Карпова Т.В.Leviashvili Z.G., Savenkova N.D., Lyubimova O.V., Levi N.L., Amiryan M.О., Karpova T.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/1975

Орфанный наследственный гипофосфатемический рахит (ГР) с гиперкальциурией (OMIM: 241530; ORPHA:157215) с аутосомно-рецессивным типом наследования встречается с распространенностью предположительно 1:250 000 детского населения. Наследственный ГР с гиперкальциурией впервые описан M.Tieder et al. (1985). Синдром обусловлен гетерозиготной или гомозиготной мутациями в гене SLC34A3, картированном на хромосоме 9q34.3, кодирующим натрий-фосфатный котранспортер II типа (NaPi-IIc). Мутации приводят к потере функции NaPi-IIc и нарушению ре-абсорбции фосфатов в проксимальном отделе нефрона почек. Наследственный ГР с гиперкальциурией характеризуется снижением реабсорбции фосфатов в проксимальных канальцах нефронов, проявляется гиперфосфатурией, гиперкальциурией, гипофосфатемией, повышением концентрации 1,25(OH) 2D3 , снижением циркулирующего в крови паратиреоидного гормона (ПТГ), остеомаляцией, задержкой роста, низкорослостью. В статье представлены характеристики фенотипа и генотипа наследственного ГР с гиперкальциурией, критерии диагностики и стратегия лечения. Приведено описание клинического случая наследственного ГР с гиперкальциурией, нефрокальцинозом и уролитиазом вследствие мутации гена SLC34A3.

Orphan Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) (OMIM: 241530; ORPHA: 157215) with an autosomal recessive mode of inheritance occurs with an estimated prevalence of 1: 250,000 in the child population. HHRH was first described by M. Tieder, et al. (1985). The syndrome is caused by heterozygous or homozygous mutations in the SLC34A3 gene mapped to chromosome 9q34.3, which encodes a type II sodium phosphate cotransporter (NaPiIIc). Mutations result in loss of NaPi-IIc function and impairment of phosphate reabsorption in the proximal renal nephron. HHRH is characterized by a decrease in phosphate reabsorption in the proximal nephron tubules, manifested by hyperphosphaturia, hypercalciuria, hypophosphatemia, an increase in the concentration of 1,25(OH) 2D3, a decrease in parathyroid hormone (PTH) circulating in the blood, osteomalacia, inhibition of growth, low corrosiveness, low corrosiveness. The article presents the characteristics of the phenotype and genotype of HHRH, diagnostic criteria and treatment strategy. A description of a clinical case of HHRH with hypercalciuria, nephrocalcinosis and urolithiasis due to mutation of the SLC34A3gene is presented.

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The authors declare that there are no conflicts of interest present.