[Jeune's syndrome (3 case reports)].

Abstract:

: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.

journal_name

Srp Arh Celok Lek

authors

Novaković I,Kostić M,Popović-Rolović M,Sindjić M,Peco-Antić A,Jovanović O,Krscić D

subject

Has Abstract

pub_date

1996-01-01 00:00:00

pages

244-6

eissn

0370-8179

issn

2406-0895

journal_volume

124 Suppl 1

pub_type

杂志文章
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  • [Post-traumatic systemic fat embolism syndrome. Retrospective autopsy study].

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  • [Effect of slow repetitive transcranial magnetic stimulation on depression in patients with Parkinson 's disease].

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  • [Acalculia].

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