Martin S R, Garel L, Alvarez F
Division of Gastroenterology and Nutrition, Hôpital Sainte-Justine, Montreal, Quebec, Canada.
Arch Dis Child. 1996 Mar;74(3):232-5. doi: 10.1136/adc.74.3.232.
Although renal abnormalities have been described in children with Alagille's syndrome, cystic kidney disease has not often been documented, and then usually only at necropsy. Three children with Alagille's syndrome are described, in two of whom a unilateral multicystic dysplastic kidney was detected by prenatal ultrasound; in the other, a solitary cortical cyst was found later in childhood. All have normal renal function, growth, and liver synthetic function but continue to have clinical and biochemical signs of cholestasis. These cases show that unilateral cystic kidney disease with or without renal dysplasia may be associated with Alagille's syndrome, that the clinical course is not necessarily unfavourable, and that Alagille's syndrome should be included in the differential diagnosis of cystic kidney disorders associated with cholestatic liver disease. Patients with Alagille's syndrome should be evaluated by renal ultrasound.
虽然已在阿拉吉耶综合征患儿中描述了肾脏异常，但多囊肾病并不常见，且通常仅在尸检时才被发现。本文描述了3例阿拉吉耶综合征患儿，其中2例经产前超声检查发现单侧多囊性发育不良肾；另1例在儿童期后期发现孤立性皮质囊肿。所有患儿肾功能、生长发育及肝脏合成功能均正常，但仍有胆汁淤积的临床和生化体征。这些病例表明，伴有或不伴有肾发育异常的单侧囊性肾病可能与阿拉吉耶综合征相关，其临床病程不一定不利，且阿拉吉耶综合征应纳入与胆汁淤积性肝病相关的囊性肾病的鉴别诊断中。阿拉吉耶综合征患者应接受肾脏超声检查。
