nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.24884/1561-6274-2018-22-3-95-100nefr-370Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИPRACTICAL NOTESДЕЛЕЦИЯ КОРОТКОГО ПЛЕЧА 12-й ХРОМОСОМЫ С ФЕНОТИПИЧЕСКИМИ ПРОЯВЛЕНИЯМИ КИСТОЗА ПОЧЕК: КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕDELETION OF 12 CHROMOSOME SHORT ARM WITH PHENOTYPIC MANIFESTATIONS OF KIDNEY CYSTOZIS: CLINICAL OBSERVATIONАндрееваЭ. Ф.AndreevaE. F.

канд. мед. наук 194100, Санкт-Петербург, Литовская, л. 2. Федеральное государственное образовательное учреждение высшего образования «Санкт-Петербургский государственный педиатрический медицинский университет» МЗ РФ, ассистент кафедры факультетской педиатрии, педиатр, нефролог

pediatrician, nephrologist, assistant of department of faculty pediatrics of the Saint-Petersburg State Pediatric Medical University Affi liations: 194100 Russia, St-Petersburg, Lytovskaya st., 2, St.- Petersburg State Pediatric Medical University

A-Elvira@yandex.ruСанкт-Петербургский государственный педиатрический медицинский университет, РоссияРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation20181205201822395100Copyright © Андреева Э.Ф., 20182018Андреева Э.Ф.Andreeva E.F.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/370

Делеция 12р (del12p; синонимы: рartial deletion of the short arm of chromosome 12; рartial monosomy of chromosome 12p; рartial monosomy of the short arm of chromosome 12) относится к орфанным заболеваниям (ORPHA: 316244; МКБ- 10: Q93.5) и характеризуется разнообразием фенотипических проявлений. Представлена взаимосвязь описанных за 40 лет локусов-кандидатов короткого плеча 12-й хромосомы с фенотипическими проявлениями при del12p, однако редко предметом изучения являлась патология органов мочевой системы при del12p. M. Stumm и cоавт. (2007) указывают на тазовую дистопию кистозных почек при данной мутации. Нами описано клиническое наблюдение мальчика с кистозом почек, развитием неонатального острого повреждения почек, с исходом в хроническую болезнь почек, отставанием в психомоторном и физическом развитии, косоглазием, ДМПП, микрогнатией, ларингомаляцией при интерстициальной делеции короткого плеча 12-й хромосомы.

 

Deletion 12p (del12p; synonyms: рartial deletion of the short arm of chromosome 12; рartial monosomy of chromosome 12p; рartial monosomy of the short arm of chromosome 12) relates to orphan diseases (ORPHA: 316244; ICD-X: Q93.5) and is characterized by a variety of phenotypic manifestations. The connection of loci candidates 12 chromosome’s short arm with phenotypic manifestations at del12p is described over 40 years of, but rarely the subject of study was the pathology of the urinary system while del12p. M. Stumm et all (2007) indicate pelvic dystopia of cystic kidneys in this mutation. We describe the boy’s clinical observation with cystic kidney disease, the development of neonatal Acute Kidney Injury, with an outcome in Chronic Kidney Disease, lag in neurological and physical development, strabismus, atrial septal defect, micrognatia, laryngomalacia in the short arm interstitial deletions of 12 chromosomes.

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