Schwyzer U, Litschgi M, Schinzel A
Institut für Medizinische Genetik, Universität Zürich.
Geburtshilfe Frauenheilkd. 1989 Aug;49(8):759-61. doi: 10.1055/s-2008-1036081.
Ultrasonographic investigations in a family with two members (uncle and niece) with bilateral renal agenesis disclosed various urogenital malformations (pelvic kidney, unilateral renal agenesis, duplication of kidneys and exstrophy of the cloaca). Pedigree and types of malformations found, focused on renal adysplasia, a condition caused by an autosomal dominant gene with incomplete penetrance and a wide range of expression. Carriers of the gene may reveal variable urogenital malformations, including uni- or bilateral renal agenesis of dysplasia, horseshoe kidneys, pelvic kidney and others. Prenatal ultrasonographic diagnosis is essential in pregnancies of potential or established carriers of the gene. In the present family, 2 subsequent pregnancies were subjected to ultrasonographic diagnosis; in one, fetal renal agenesis was detected and confirmed in the subsequently aborted fetus. Fetal ultrasonography with special attention paid to urogenital anomalies is indicated in any pregnancy of an established or potential carrier of the gene for renal adysplasia.
对一个有两名成员（叔叔和侄女）患双侧肾缺如的家庭进行超声检查，发现了各种泌尿生殖系统畸形（盆腔肾、单侧肾缺如、重复肾和泄殖腔外翻）。根据所发现的系谱和畸形类型，重点关注肾发育异常，这是一种由常染色体显性基因引起的疾病，具有不完全显性和广泛的表现形式。该基因的携带者可能会出现各种泌尿生殖系统畸形，包括发育异常的单侧或双侧肾缺如、马蹄肾、盆腔肾等。对于该基因潜在或已确定的携带者的妊娠，产前超声诊断至关重要。在这个家庭中，随后的2次妊娠接受了超声诊断；其中一次，在随后流产的胎儿中检测并确认了胎儿肾缺如。对于肾发育异常基因已确定或潜在的携带者的任何妊娠，均建议进行特别关注泌尿生殖系统异常的胎儿超声检查。
