nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical Universitynefr-101Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИPRACTICAL NOTESVATER / VACTERL ассоциацияVATER / VACTERL ASSOCIATIONЛевиашвилиЖ. Г.LeviashviliJ. G.jannalevi@gmail.comОсиповИ. Б.OsipovI. B.noemail@neicon.ruЛевичеваО. В.LevichevaO. V.noemail@neicon.ruКарповаТ. В.KarpovaT. V.noemail@neicon.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg state pediatric medical universityRussian Federation2015010520151937985Copyright © Левиашвили Ж.Г., Осипов И.Б., Левичева О.В., Карпова Т.В., 20152015Левиашвили Ж.Г., Осипов И.Б., Левичева О.В., Карпова Т.В.Leviashvili J.G., Osipov I.B., Levicheva O.V., 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/101

Представлено клиническое наблюдение пациентки с множественными пороками развития - VACTERL ассоциации (OMIM 192350): V (нарушение сегментации Th 4-12 и ребер, врожденный кифосколиоз позвоночника, гидромиелия, киста копчика), C (декстракардия), T (трахеопищеводный свищ), E (атрезия пищевода), R (гидронефроз перекрестно дистопированной правой почки, ПМР IV), L (варусная деформация нижних конечностей). Обсуждаются диагностика, дифференциальная диагностика и терапия.

Clinical observation of patient with multiple malformations - VACTERL association (OMIM 192350) is presented: V (segmentation disturbance of Th 4-12 and ribs, congenital vertebral kyphoscoliosis, gidromiyeliya, coccyx cyst), C (dextrocardia), T (tracheoesophagial fistula), E (esophagus atresia), R (hydronephrosis of right cross-misplaced kidney, two-dimensional dystopia of a right kidney, vesicoureteral reflux IV), L (varus deformation of the lower extremities). Diagnostics, differential diagnostics and therapy are discussed.

врожденные дефекты мочевыделительной системымножественные пороки развитияVATER ассоциацияVACTERL ассоциацияVATER associationVACTERL associationcongenital defects of urinary systemmultiple malformationsReferencesSolomon, B.D., Pineda-Alvarez, D.E., Raam, M.S., Cummings, D.A.T. Evidence for inheritance in patients with VACTERL association. Hum. Genet. 2010; 127: 731-733Solomon, B.D., Pineda-Alvarez, D.E., Raam, M.S., Cummings, D.A.T. Evidence for inheritance in patients with VACTERL association. Hum. 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Genet. 1982; 21: 122-124, [PubMed: 7083612]Meinolf Noeker, Muriel Schmitz, Eberhard Schmiedeke, Nadine Zwink, Heiko Reutter, Dominik Schmidt, Ekkehart Jenetzky; Medical predictors of psychological anxieties in VATER patients; Pediatric Surgery International 2011; 27(10): 1079-1083Meinolf Noeker, Muriel Schmitz, Eberhard Schmiedeke, Nadine Zwink, Heiko Reutter, Dominik Schmidt, Ekkehart Jenetzky; Medical predictors of psychological anxieties in VATER patients; Pediatric Surgery International 2011; 27(10): 1079-1083Website: http//www.ncbi.nlm.gov/omim/OMIMnumbers.Website: http//www.ncbi.nlm.gov/omim/OMIMnumbers.Левиашвили Ж.Г., Аничкова И.В., Лови Н.Л., Любимова О.В., Лободов Д.А., Лысенко Л.А., Особенности патологии почек при синдроме Rubinstein-Taybi, Нефрология 2014; 18 (3): 89-95 [Leviashvili Zh.G., Anichkova I.V., Levi N.L., Ljubimova O.V., Lebedev D.A., Lysenko L.A., 0sobennosti patologii pochek pri sindrome Rubinstein-Taybi, Nefrologija 2014; 18 (3): 89-95]Левиашвили Ж.Г., Аничкова И.В., Лови Н.Л., Любимова О.В., Лободов Д.А., Лысенко Л.А., Особенности патологии почек при синдроме Rubinstein-Taybi, Нефрология 2014; 18 (3): 89-95 [Leviashvili Zh.G., Anichkova I.V., Levi N.L., Ljubimova O.V., Lebedev D.A., Lysenko L.A., 0sobennosti patologii pochek pri sindrome Rubinstein-Taybi, Nefrologija 2014; 18 (3): 89-95]

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