perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2017-62-5-106-110perinatology-559Research ArticleНАСЛЕДСТВЕННЫЕ БОЛЕЗНИHEREDITARY DISEASESСиндром Вильямса у ребенка с полиорганной патологиейWilliams syndrome in a child with a multiple organ pathologyМихайловаТ. В.MihajlovaT. V.

к.м.н., доц. кафедры педиатрии с курсом поликлинической Казанской государственной медицинской академии

420012 Казань, ул. Муштари, д.11

СадыковаД. И.SadykovaD. I.

д.м.н., проф., зав. кафедрой педиатрии с курсом поликлинической педиатрии  Казанской государственной медицинской академии

420012 Казань, ул. Муштари, д.11

ПудовикТ. В.PudovikT. V.

врач-нефролог высшей категории Детской городской поликлиники № 2

420097 Казань, ул. Шмидта, д.30

Казанская государственная медицинская академия – филиал ФГБОУ ДПО РМАНПО Минздрава РоссииРоссияKazan state medical AcademyRussian FederationГАУЗ «Детская городская поликлиника № 2РоссияCity Children hospital №2Russian Federation201711112017625106110Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20172017Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/559

Представлен клинический случай синдрома Вильямса с полиорганной патологией, сочетающей отставание в умственном развитии, врожденный порок сердца (надклапанный стеноз аорты), артериальную гипертензию, гиперкальциемию, гиперкальциурию, осложненные нефрокальцинозом, поражение желудочно-кишечного тракта, лицевые и глазные аномалии, грыжи передней брюшной стенки, кифосколиоз. Микросателлитный анализ локусов критического района хромосомы 7 обнаружил делецию исследуемых локусов (D7S1870, D7S613, D7S2476, D7SEln), что дало основание подтвердить диагноз синдрома Вильямса.

The article describes the clinical case of Williams syndrome with the combined pathology of many systems and organs: mental retardation, congenital heart disease (supravalvular aortic stenosis), arterial hypertension, hypercalcemia, hypercalciuria complicated by nephrocalcinosis, gastrointestinal tract injury, facial and eye anomalies, hernia of anterior abdominal wall, kyphoscoliosis. Microsatellite analysis of the loci of the critical region of chromosome 7 revealed a deletion of the investigated loci (D7S1870, D7S613, D7S2476, D7SEln), which led to the diagnosis of Williams syndrome.

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