Novaković I, Kostić M, Popović-Rolović M, Sindjić M, Peco-Antić A, Jovanović O, Krscić D
University Children Hospital, Belgrade.
Srp Arh Celok Lek. 1996;124 Suppl 1:244-6.
Jeune's syndrome or asphyxiating thoracic dystrophy is an autosomal recessive osteochondrodysplasia with multisystem involvement. In patients who survive neonatal period in the main clinical feature progressive renal failure is. Renal lesions are variable but is familial juvenile nephronophtisis the most frequent one. We present three patients with Jeune's syndrome phenotype and chronic tubulointerstitial disease. All patients developed terminal renal failure in the eyrly childhood. Renal histology, examined in two cases, was consistent with juvenile nephronophtisis in one case and with renal dysplasia in other case. All our patients had hepatic fibrosis and two of them had pigmentary retinophaty. We want to underline the importance of regular check-up of children with typical phenotype by pediatrician-nephrologist as wel as possibility of prenatal diagnosis of Jeune's syndrome.
热内综合征或窒息性胸廓发育不良是一种常染色体隐性遗传性骨软骨发育不良，累及多个系统。在度过新生儿期存活下来的患者中，主要临床特征是进行性肾衰竭。肾脏病变各不相同，但家族性青少年肾单位痨是最常见的一种。我们报告了3例具有热内综合征表型和慢性肾小管间质性疾病的患者。所有患者在儿童早期均发展为终末期肾衰竭。对其中2例患者进行了肾脏组织学检查，1例符合青少年肾单位痨，另1例符合肾发育不良。我们所有的患者都有肝纤维化，其中2例有色素性视网膜病变。我们想强调儿科肾病专家对具有典型表型儿童进行定期检查的重要性以及热内综合征产前诊断的可能性。
