m+Medelevator.RU
← Поиск публикаций
Clinical case reports · 2026

From Childhood Icterus to Adolescent Gallstones: Clinically Diagnosed Crigler-Najjar Syndrome Type II.

СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Goswami Danish Kumar, Goswami Barkha, Shaikh Samiullah, Rahimoon Abdul Ghani, Soni Rakesh, Kamil Kamil Ahmad

Аннотация

Crigler-Najjar syndrome type II (CNS-II) is an uncommon cause of persistent unconjugated hyperbilirubinemia resulting from partial deficiency of hepatic UDP-glucuronosyltransferase activity. We report the case of a 19-year-old male who presented with intermittent jaundice since childhood and recent worsening of scleral icterus. Laboratory evaluation revealed isolated unconjugated hyperbilirubinemia with normal liver enzymes. Genetic testing was unavailable; however, serum bilirubin levels declined significantly following phenobarbital therapy, confirming the diagnosis of CNS-II. Abdominal ultrasonography demonstrated gallstones, indicating chronic bilirubin supersaturation secondary to longstanding hyperbilirubinemia. The patient was managed conservatively with phenobarbital and counseling on avoiding precipitating factors such as fasting and hepatotoxic drugs. This case underscores the importance of recognizing CNS-II as a differential diagnosis in young adults with isolated unconjugated hyperbilirubinemia and cholelithiasis. It also highlights phenobarbital responsiveness as a valuable diagnostic tool in settings lacking molecular testing.

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты