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Агенезия желчного пузыря и нормальный холецистогенез (обзор литературы)

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Агенезия желчного пузыря - редкая аномалия развития, частота которой составляет 4-6 на 10 000 новорожденных и 1 : 190-250 холецистэктомий. Из 126 наблюдений, опубликованных за 1967-2012 гг., холедохолитиаз обнаружен у 20% пациентов, сочетанные аномалии развития - у 8%, злокачественные новообразования - у 2,4%, панкреонекроз - у 2%. Холато-холестериновый индекс желчи был снижен у всех обследованных. Описаны наблюдения агенезии на фоне пороков развития, обусловленных нарушением обмена холестерина и его производных. Агенезия может симулировать хронический холецистит, проявиться желчной коликой, хроническим панкреатитом, холангитом, желчным рефлюкс-эзофагитом. В эксперименте на мышах изолированная агенезия развивается при гипоморфии гена Lgr4. Пренатальное УЗИ позволяет проводить диспансерное наблюдение, упрощает диагностику и медикаментозное лечение. Для уточнения патогенеза симптоматической агенезии необходимы дальнейшие исследования.

Ключевые слова:
желчный пузырь, агенезия, аплазия, пороки развития, холедохолитиаз, осложнения холецистэктомии, эмбриогенез, Lgr4, gallbladder, agenesis, aplasia, congenital anomalies, choledocholithiasis, cholecystectomy complications, embryogenesis

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Gallbladder Agenesis and the Normal Gallbladder Development (review)

Gallbladder agenesis is a rare congenital anomaly occurring in 4 to 6 per 10,000 births and in 1 per 190-250 cholecystectomies. Out of 126 case reports published from 1967 to 2012 choledocholithiasis was found in 20% of patients, coexisting congenital anomalies in 8%, malignant neoplasms in 2.4%, and pancreonecrosis in 2% of patients. Decrease of bile cholato-cholesterol ratio was observed in all the patients tested. There are case reports of gallbladder agenesis associated with congenital anomalies related to cholesterol and its derivatives metabolism disorders. Gallbladder agenesis can mimic chronic cholecystitis, its clinical presentation can be consistent with biliary colic, chronic pancreatitis, cholangitis, or bile reflux esophagitis. Studies reveal the development of isolated gallbladder agenesis in Lgr4-hypomorphic mice. Prenatal ultrasonography facilitates diagnosis, treatment, and follow-up for gallbladder agenesis. Additional studies are needed for further clarification of the pathogenesis of symptomatic gallbladder agenesis.

Keywords:
желчный пузырь, агенезия, аплазия, пороки развития, холедохолитиаз, осложнения холецистэктомии, эмбриогенез, Lgr4, gallbladder, agenesis, aplasia, congenital anomalies, choledocholithiasis, cholecystectomy complications, embryogenesis