Proteinüri ile İzlenen Bir Jeune Sendromu Olgusu

Year 2013, Volume: 11 Issue: 2, 88 - 91, 01.09.2013

Nurcan Cengiz Buket Kılıçaslan Tuba Canpolat Şenay Demir Aytül Noyan

https://doi.org/10.4274/Jcp.11.09797

Abstract

Jeune sendromu veya “asfiktik torasik distrofi“, multiorgan tutulumu ile giden, otozomal resesif geçişli bir iskelet displazisidir. İskelet displazisi küçük, dar toraks, kısa kaburga, kısa kare iliak kanat ve kısa kollu cücelik ile karakterizedir. Multiorgan tutulumu ise böbrek, karaciğer, pankreas ve retina komplikasyonlarını içerebilir. Bebeklik ve çocukluk dönemlerinde %60-70’i solunum yetmezliği ile hayatını kaybetmektedir. Bu dönemde hayatta kalmayı başaran hastalar, Jeune sendromunun bir başka ciddi komplikasyonu olan böbrek tutulumu ile gelebilirler. Biz burada; seyrek görülmesi nedeniyle, proteinüri ile izlenen bir Jeune sendromu olgusu sunduk.Yedi yaşındaki kız hasta, hastaneye bir yıldır var olan büyüme geriliği ve üç aydır devam eden idrar kaçırma, idrara sıkışma ve sık idrar yapma şikâyetleri ile başvurdu. İskelet sistemi taraması Jeune sendromu ile uyumlu bulundu. Laboratuvar incelemesinde idrar analizi ve böbrek fonksiyon testleri normal sınırlarda idi. Başlangıçtaki Jeune sendromu tanısından 2 yıl sonra, hastada proteinüri gelişmesi üzerine pediatrik nefroloji bölümüne refere edildi. İzlemde, persistan proteinüri nedeniyle hastaya böbrek biopsisi yapıldı. Histolojik tanı, kronik sklerozan glomerulonefrit ile uyumlu bulundu. Biz bu olgu ile nadir görülen bu sendromdaki böbrek tutulumunun yıllar içerisindeki ilerlemesine işaret etmek istiyoruz. Jeune sendromu tanısı alan hastalar, böbrek tutulumu ve bunu izleyen böbrek yetmezliği açısından pediatrik nefrologlarla birlikte yakından izlenmelidir

Keywords

Jeune sendromu, asfiktik torasik distrofi, proteinüri, böbrek tutulumu

Jeune Syndrome with Proteinuria: A Case Report

Abstract

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

Keywords

Jeune syndrome, asphyxiating thoracic dystrophy, proteinuria, renal involvement

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