Zingg-Schenk Andrea, Bacchetta Justine, Corvol Pierre, Michaud Annie, Stallmach Thomas, Cochat Pierre, Gribouval Olivier, Gubler Marie-Claire, Neuhaus Thomas J
Nephrology Unit, University Children's Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland.
Eur J Pediatr. 2008 Mar;167(3):311-6. doi: 10.1007/s00431-007-0492-1. Epub 2007 Apr 19.
Renal tubular dysgenesis (RTD) is a clinical disorder either acquired during fetal development or inherited as an autosomal recessive condition. Inherited RTD is caused by mutations in the genes encoding the components of the renin-angiotensin system angiotensinogen, renin, angiotensin-converting enzyme and angiotensin II receptor type 1. Inherited RTD is characterized by early onset oligohydramnios, skull ossification defects, preterm birth and neonatal pulmonary and renal failure. The histological hallmark is the absence or poor development of proximal tubules. So far, all patients died either in utero or shortly after birth. We report the first patients with inherited RTD surviving the neonatal period and still being alive. Genetic and functional analysis of the renin-angiotensin system contributes to the diagnosis of RTD. In conclusion, the clinical diagnosis of inherited RTD is easily missed after birth without renal biopsy or information on affected family members. Genetic and functional analysis of the renin-angiotensin system contributes to correct diagnosis.
肾小管发育不全（RTD）是一种在胎儿发育期间获得的临床病症，或作为常染色体隐性疾病遗传。遗传性RTD由编码肾素 - 血管紧张素系统成分（血管紧张素原、肾素、血管紧张素转换酶和1型血管紧张素II受体）的基因突变引起。遗传性RTD的特征是早期羊水过少、颅骨骨化缺陷、早产以及新生儿肺和肾衰竭。组织学特征是近端小管缺失或发育不良。到目前为止，所有患者均在子宫内或出生后不久死亡。我们报告了首例遗传性RTD患者存活至新生儿期且仍然存活。肾素 - 血管紧张素系统的基因和功能分析有助于RTD的诊断。总之，若无肾活检或关于患病家庭成员的信息，遗传性RTD在出生后很容易漏诊。肾素 - 血管紧张素系统的基因和功能分析有助于正确诊断。
