nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2023-27-1-18-30nefr-2193Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESПервичная гипероксалурия I, II, III типов у детей (обзор литературы)Primary hyperoxaluria I, II, III types in children (review of literature)https://orcid.org/0000-0002-7998-2849АмирянМ. О.AmiryanM. O.

Маргарита Оганесовна Амирян, асс.

кафедра факультетской педиатрии

194100

Литовская д. 2

Санкт-Петербург

тел.: (812) 4165266

Margarita O. Amiryan, ass., MD

Department of Faculty Pediatrics

194100

Litovskaya 2

Saint-Petersburg

tel.: (812) 4165266

margarita_amiryan@outlook.comhttps://orcid.org/0000-0002-5881-0124ЛевиашвилиЖ. Г.LeviashviliZh. G.

Жанна Гавриловна Левиашвили, проф., д-р мед. наук

кафедра факультетской педиатрии

194100

Литовская д. 2

Санкт-Петербург

тел.: (812) 4165266

Zhanna G. Leviashvili, Prof., MD, PhD, DMedSci

Department of Faculty Pediatrics

194100

Litovskaya 2

Saint-Petersburg

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

Надежда Дмитриевна Савенкова, проф., д-р мед. наук

кафедра факультетской педиатрии

194100

ул. Литовская, д. 2

Санкт-Петербург

тел.: (812) 4165286

Nadezhda D. Savenkova, Prof., MD, PhD, DMedSci

Department of Faculty Pediatrics

194100

st. Lithuanian, 2

Saint-Petersburg

Savenkova.n.spb@mail.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg Pediatric Medical UniversityRussian Federation2023060320232711830Copyright © Амирян М.О., Левиашвили Ж.Г., Савенкова Н.Д., 20232023Амирян М.О., Левиашвили Ж.Г., Савенкова Н.Д.Amiryan M.O., Leviashvili Z.G., Savenkova N.D.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/2193

   В обзоре приведены новейшие данные о классификации, патогенезе, клинико-генетическим особенностям, терапии первичной гипероксалурии I, II, III типов у детей с аутосомно-рецессивным типом наследования. На портале орфанных заболеваний ORPHA представлены гены, ответственные за развитие первичной гипероксалурии I типа AGXT (93598); II ипа GRHPR (93599), III типа HOGA1 (93600). В результате всемирных генетических исследований установлены патогенез, особенности клинического фенотипа и генотипа первичной гипероксалурии. В основе патогенеза первичной гипероксалурии у детей лежит нарушение метаболизма глиоксилата в печени. Фермент AGT катализирует превращение L-аланина и глиоксилата в пируват и глицин, коферментом данной реакции выступает витамин В 6 (пиридоксин). Увеличение выработки эндогенного оксалата приводит к повышению концентрации оксалатов в крови и мочевой экскреции оксалатов с образованием почечных оксалатно-кальциевых кристаллов и рентгеноконтрастных конкрементов (моногидрат оксалата кальция – вевеллит, дигидрат оксалата кальция – веделлит). Риск прогрессирования при первичной гипероксалурии у детей I и II типов высокий. С увеличением уровня оксалатов в сыворотке крови и образования кристаллов оксалата кальция с отложением во многих органах и тканях развивается системный оксалоз. Терапия первичной гипероксалурии у детей включает: гидратацию (3 л/м2 /сут) и цитраты 100–150 мг/кг/сут (цитрат калия 0,3–0,5 ммоль/кг/сут), пиридоксин в дозе от 5 до 20 мг/кг/сут при витамин B 6 -чувствительной форме первичной гипероксалурии I типа. Эффективно назначение oxalobacter formigenes и диеты. Осуществляется комбинированная трансплантация печени и затем почек или одновременная печени и почек у пациентов с ПГ I типа при B 6-нечувствительном и изолированная трансплантация печени при B 6-чувствительном вариантах. Своевременное молекулярно-генетическое исследование у детей с нефрокальцинозом позволяет установить клинико-генетический диагноз ПГ I, II, III типов, осуществить персонализированный подход к лечению и предиктивность-прогнозирование состояния здоровья в будущем.

   This review presents the latest data on the classification, pathogenesis, clinical and genetic features, and therapy of primary hyperoxaluria types I, II, and III in children with autosomal recessive inheritance. ORPHA portal of orphan diseases presents genes responsible for primary hyperoxaluria type I AGXT (93598); type II and type II GRHPR (93599), type III HOGA1 (93600). Worldwide genetic studies have established the pathogenesis, clinical phenotype and genotype features of primary hyperoxaluria. The pathogenesis of primary hyperoxaluria in children is based on impaired hepatic glyoxylate metabolism. The enzyme AGT catalyzes the conversion of L-alanine and glyoxylate to pyruvate and glycine, with vitamin B6 (pyridoxine) serving as a coenzyme for this reaction. Increased production of endogenous oxalate leads to increased blood oxalate concentrations and urinary oxalate excretion with the formation of renal calcium oxalate crystals and radiopaque concrements (calcium oxalate monohydrate – vevelite, calcium oxalate dihydrate – vedellite). High risk of progression to chronic kidney disease in primary hyperoxaluria in children of types I and II. Systemic oxalosis develops with increasing serum oxalate levels and the formation of calcium oxalate crystals with deposition in many organs and tissues. Therapy for primary hyperoxaluria in children includes: hydration (3l/m2/day) and citrates 100–150 mg/kg/day (potassium citrate 0.3–0.5 mmol/kg/day), pyridoxine at a dose of 5 to 20 mg/kg/day for vitamin B6 sensitive type I primary hyperoxaluria. Administration of oxalobacter formigenes and diet is effective. Combined liver and then kidney transplantation or simultaneous liver and kidney transplantation in patients with type I PH in B6-insensitive and isolated liver transplantation in B6-sensitive variants are performed. Timely molecular genetic testing in children with nephrocalcinosis makes it possible to establish a clinical and genetic diagnosis of type I, II, III PH, to carry out a personalised approach to treatment and to predict future health status.

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