nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное общество10.28996/2618-9801-2018-2-225-229nid-338Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИCASE REPORTSАутосомно-доминантная тубулоинтерстициальная болезнь почек вследствие мутации в гене MUC1. Обзор литературы и клиническое наблюдениеAutosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutation. Review and case reportКаганМ. Ю.KaganM. Yu.mkaganorenburg@yahoo.comБервинаН. Н.BervinaN. N.noemail@neicon.ruОсокинА. Е.OsokinA. E.noemail@neicon.ruБеляшоваЕ. Ю.BelyashovaE. Yu.noemail@neicon.ruБУЗ "Областная детская клиническая больница"РоссияOrenburg regional clinical children’s hospitalRussian FederationГАУЗ "Оренбургская областная клиническая больница №2"РоссияOrenburg regional clinical hospital No. 2Russian Federation201812082024202225229Copyright © Каган М.Ю., Бервина Н.Н., Осокин А.Е., Беляшова Е.Ю., 20242024Каган М.Ю., Бервина Н.Н., Осокин А.Е., Беляшова Е.Ю.Kagan M.Y., Bervina N.N., Osokin A.E., Belyashova E.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/338

Нефропатия, ассоциированная с мутацией муцина 1, редкое генетическое заболевание, для которого характерны аутосомно-доминантный тип наследования, незначительные изменения в анализах мочи, развитие тубулярной атрофии и интерстициального фиброза, медленное прогрессирующее снижение функции почек. В 2014 г. на конференции KDIGO это заболевание, вместе с некоторыми другими, имеющими сходные клинико-морфологические проявления, было объединено в одну группу под общим названием аутосомно-доминантная тубулоинтерстициальная болезнь почек. Нефробиопсия не имеет большого значения для диагностики этого заболевания. Единственная известная в настоящее время мутация заключается в дополнительной вставке цитозина в последовательность из 7 цитозинов в вариабельном числе тандемных повторов в кодирующей части гена MUC1. Эта мутация не может быть выявлена ни секвенированием по Сэнгеру, ни высокопроизводительным сиквенсом нового поколения и определяется с помощью специально разработанного метода генетического анализа. Мы приводим наблюдение 13-летней девочки с семейным анамнезом, отягощённым по хронической болезни почек, у которой генетическое исследование выявило мутацию MUC1.

Nephropathy associated with a mutation in mucin 1 coding gene, a rare hereditary kidney disease characterized by an autosomal dominant type of inheritance, minor changes in urine analysis, development of tubular atrophy and interstitial fibrosis, a slow progressive decrease in renal function. In 2014 at a KDIGO conference, this disease, together with some others having similar clinical and morphological features, was grouped under the common name of autosomal dominant tubulointerstitial kidney disease. Kidney biopsy is not of great importance for the diagnosis of this disease. The only currently known mutation is a single cytosine insertion into a string of 7 cytosines in the variable-number tandem repeat (VNTR) region of the MUC-1 gene. This mutation cannot be detected either by sequencing by Sanger or by a new generation sequencing and is determined by a specially developed method of genetic analysis. We report a case of a 13-year-old girl with a strong family history of chronic kidney disease who was tested positive for the MUC1 mutation.

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