Morava E, Smith C, Pierce M, Andersson H C
Human Genetics Program, Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
J La State Med Soc. 2001 Jan;153(1):27-30.
We report a neonatal case of right renal aplasia with left dysplastic kidney and mild pulmonary hypoplasia. The respiratory insufficiency gradually improved on high frequency oscillation and conventional ventilation. Severe hypotension necessitated the use of inotrops. Anuria and electrolyte imbalances were managed by peritoneal dialysis. At age 13 days the baby had a small bowel perforation, developed septic shock and, after discussion with the multi-disciplinary team and the family, inotropic support was withdrawn and the baby died. The family history revealed the father had a newborn from a previous marriage who died secondary to bilateral renal agenesis. Renal studies in the father showed agenesis of the kidney with normal renal functions suggesting the diagnosis of hereditary renal adysplasia, an autosomal dominant condition with variable expression. This case illustrates the importance of renal ultrasound of the parents and siblings of affected newborns with structural kidney anomalies. A general consensus is lacking as to which infants with bilateral renal adysplasia should be aggressively treated.
我们报告一例新生儿病例，该患儿右侧肾缺如，左侧肾发育不良并伴有轻度肺发育不全。呼吸功能不全在高频振荡通气和传统通气治疗下逐渐改善。严重低血压需要使用血管活性药物。无尿和电解质失衡通过腹膜透析处理。患儿13天时发生小肠穿孔，发展为感染性休克，在与多学科团队和患儿家属讨论后，停用血管活性药物支持，患儿死亡。家族史显示，患儿父亲与前妻育有一新生儿，该新生儿因双侧肾缺如继发死亡。对患儿父亲的肾脏检查显示肾脏缺如但肾功能正常，提示遗传性肾发育不良的诊断，这是一种常染色体显性疾病，表现多样。该病例说明了对患有结构性肾脏异常的新生儿的父母及兄弟姐妹进行肾脏超声检查的重要性。对于哪些双侧肾发育不良的婴儿应积极治疗，目前尚无普遍共识。
