Jeune's syndrome (3 case reports)

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 nephronophtisi...

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Bibliographic Details
Published inSrpski arhiv za celokupno lekarstvo Vol. 124 Suppl 1; p. 244
Main Authors Novaković, I, Kostić, M, Popović-Rolović, M, Sindjić, M, Peco-Antić, A, Jovanović, O, Krscić, D
Format Journal Article
LanguageSerbian
Published Serbia 1996
Subjects
Child
Child, Preschool
Female
Humans
Kidney Failure, Chronic
Male
Osteochondrodysplasias
Syndrome
Thorax - abnormalities
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Summary: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.
ISSN:0370-8179