Ring E, Zobel G, Ratschek M, Trop M, Wendler H
Department of Pediatrics, University of Graz, Austria.
Child Nephrol Urol. 1990;10(2):88-91.
Two patients are reported who presented at the age of 12 1/2 years with advanced chronic renal failure. Clinical findings and renal histology were consistent with nephronophthisis. The retrospective diagnosis of Jeune's syndrome was possible in both. Cone-shaped phalangeal epiphyses of hands and feet and metaphyseal chondrodysplasia of femoral heads and necks were the prominent findings on skeletal survey. One patient had a small bell-shaped thorax; in the other this aspect was present on reevaluation of neonatal X-rays. Our patients support the view that nephronophthisis is the principal cause of renal failure in Jeune's syndrome and that a wider awareness of this association could lead to detection of more so far unrecognized patients.
报告了两名12岁半时出现晚期慢性肾衰竭的患者。临床发现和肾脏组织学与肾单位肾痨相符。两名患者均有可能作出尤内氏综合征的回顾性诊断。手足的锥形指骨骨骺以及股骨头和股骨颈的干骺端软骨发育异常是骨骼检查的突出发现。一名患者有小的钟形胸廓；另一名患者在重新评估新生儿X线片时发现了这一情况。我们的患者支持以下观点，即肾单位肾痨是尤内氏综合征肾衰竭的主要原因，对这种关联有更广泛的认识可能会发现更多迄今未被识别的患者。
