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Първична хипероксалурия

By Борис Попщерев

Година 12, издание 1 Издание 1

Оригинал на статия / Публикувана: Декември 2024

DOI: https://www.doi.org/10.57045/jemis/1211024.pp22-30

М. Тахчиев, К. Нейков

Клиника по урология на УСБАЛО ЕАД, София

Резюме

Първичната хипероксалурия (ПХ) може да доведе до образуването на конкременти в бъбреците. При свързването на оксалатът с калция в урината се получава калциев оксалат, който е и най-честата съставка в уроконкрементите. Първичната хипероксалурия е група от редки генетични заболявания, причиняващи загуба на специфична ензимна активност. От своя страна това води до образуването на голямо количество оксалат. Установени са 3 типа първична хипероксалурия. Първи тип е най-честият, cреща се при 80 процента от случаите. Води до терминална бъбречна недостатъчност още в детска възраст. Липсващият ензим е аланин-глиоксилат аминотрансфераза (AGT). Тип 2 се среща значително по-рядко, с много по-благоприятна прогноза. Добавянето на пиридоксин към терапията подобрява резултатите. Липсващият ензим е глиоксилат редуктаза/хидрокси пируват редуктаза (GRHPR). Тип 3 се смята с благоприятна прогноза, дължи се на мутации в гена HOGA1, Рядко води до терминална бъбречна недостатъчност. При диагностиката на ПХ се използват лабораторни изследвания, образна диагностика и генетични изследвания. Лечението на ПХ се основава на диетичен режим, високи дози пиридоксин, магнезиево съдържащи препарати, гликозаминогликани. Революция в лечението бележат агентите за РНК интерференция. При пациенти с терминална хронична бъбречна недостатъчност се прибягва до диализа и се обсъжда вариант за чернодробно бъбречна трансплантация.

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Volume 11, Issue 1
Статия [pdf]

Ключови думи:

хипероксалурия, уроконкременти, бъбречна недостатъчност, ензимна активност

Как да цитирате тази статия:

М Тахчиев, К Нейков Първична хипероксалурия; Ендоурология и минимално инвазивна хирургия, 2024; 11(1): 22-30

Адрес за кореспонденция:

Д-р Методи Тахчиев; Клиника по урология на УСБАЛО ЕАД, София
e-поща: mtahchiev@mail.bg; Тел.: 0879197157