2013 Cilt 11 Sayı 2

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Browsing by Subject "Asphyxiating thoracic dystrophy"

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    Jeune syndrome with proteinuria: A case report
    (Uludağ Üniversitesi, 2013-03-12) Cengiz, Nurcan; Kılıçaslan, Buket; Canpolat, Tuba; Demir, Şenay; Noyan, Aytül
    Jeune syndrome, or asphyxiating thoracic dystrophy, is an autosomal recessive skeletal dysplasia with multiorgan involvement. Skeletal dysplasia is characterized by small, narrow thorax, short ribs, short squared iliac wings and short limbed dwarfism. Multiorgan involvement including renal, hepatic, pancreatic, and retinal complications may also occur. About 60% to 70% of children die from respiratory failure as infants or young children. Patients with Jeune syndrome who survive often develop problems with their kidneys, another serious feature of Jeune syndrome. We, herein, report a case of Jeune syndrome with proteinuria, due to its rarity. A 7-year-old girl presented to our hospital with poor growth for a year and urinary incontinence for 3 months with urgency and frequency. Skeletal survey showed findings consistent with Jeune syndrome. Laboratory examination demonstrated normal urinalysis and renal functions. Two years after her initial diagnosis with Jeune syndrome, the patient developed proteinuria. She was referred to pediatric nephrology department when proteinuria was noted. Because of persistent proteinuria, renal biopsy was performed. The histological diagnosis was consistent with chronic sclerosing glomerulonephritis. We wish to point out the progression of renal involvement of this uncommon syndrome over several years. The patients with Jeune syndrome should be followed closely for renal involvement and subsequently renal failure in corporation with pediatric nephrologists.