Infantile Polycystic Kidney Disease a Difficulty in Prenatal Diagnosis

嬰兒多囊腎疾病是一種少見的自體隱性遺傳病，這個疾病的特色包括多囊性腎病變，肝臟組織纖維化及偶爾合併肺臟發育不全。超音波診斷中不正常腎臟解剖結構（腎臟大小及內部結構）以及腎功能衰竭（羊水過少，看不見膀胱等）是主要依據；其腎臟組織常呈現一強回聲音波影象，此乃由於腎臟組織內有許多小囊泡結構之故。羊水過少會造成胎兒Potter症候羣。由病例顯示懷孕第二期中合併羊水過少，胎兒癒後不好。在此我們提出一個經病理解剖證實為嬰兒多囊腎疾病病例，對其產前診斷作一報告。

關鍵字

嬰兒多囊腎疾病；自體隱性遺傳病；羊水過少； Potter症候羣

並列摘要

Infantile polycystic kidney disease is an autosomal recessive genetic disorder characterized by polycystic kidneys, hepatic fibrosis, and/or pulmonary phypoplasia. Prenatal diagnosis of infantile polycystic kidney disease is possible only in severe cases of perinatal type. The ultrasonographic picture of enlarged kidneys and/or increased echogenicity is characteristic but not pathognomonic. Oligohydramnios is not obligatory and is sometimes missing; nevertheless, cases of ”Potter sequence” can be observed. In cases with oligohydramnios in the second trimester, he prognosis is usually poor. Here we presented a case of infantile polycystic kidney disease in utero. It was confirmed by autopsy.

並列關鍵字

Infantile polycystic kidney disease ； Autosomal recessive genetic disorder ； Oligohydramnios ； Potter sequence

國際替代計量

Infantile Polycystic Kidney Disease a Difficulty in Prenatal Diagnosis

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