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Proteinüri ile İzlenen Bir Jeune Sendromu Olgusu

Yıl 2013, Cilt: 11 Sayı: 2, 88 - 91, 01.09.2013
https://doi.org/10.4274/Jcp.11.09797

Öz

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

Kaynakça

  • 1. O’Connor MB, Gallagher DP, Mulloy E. Jeune Syndrome. Postgrad Med J. 2008;84:559.
  • 2. Jeune M, Beraud C, Carron R. Asphyxiating thoracic dystrophy with familial characteristics. Arch Fr Pediatr 1955;12:886-9.
  • 3. Jones KL. Smith’s recognizable patterns of human malformations. 5th ed. Philadelphia: Saunders; 1997. p. 374-5.
  • 4. Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A 2011;155:1021-32.
  • 5. Lachman RS. Asphyxiating thoracic dysplasia (ATD). In: Taybi H, Lachman RS (eds). Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4th ed. St. Louise: Mosby; 1996; p. 765-8.
  • 6. Oberklaid F, Danks DM, Mayne V, Campbell P Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child 1977;52:758-65.
  • 7. Yang SS, Langer LO Jr, Cacciarelli A, Dahms BB, Unger ER, Roskamp J, et al. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. Am J Med Genet Suppl 1987;3:191-207.
  • 8. Brueton LA, Dillon MJ, Winter RM. Ellis van Creveld syndrome, Jeune syndrome and renal hepatic pancreatic dysplasia: Separate entities or disease spectrum? J Med Genet 1990;7:252-5.
  • 9. Ho NC, Francomano CA, van Allen M. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (VermaNaumoff) are variants of the same disorder. Am J Med Genet 2000;90:310-4.
  • 10. Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, et al. A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. J Med Genet 2003;40:431-5.
  • 11. Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y. Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J Med Genet 1995;55:16-8.
  • 12. Özçay F, Derbent M, Demirhan B, Tokel K, Saatçi Ü. A family with Jeune syndrome. Pediatr Nephrol 2001;16:623-6.
  • 13. Poggiani C, Gasparoni MC, Mangili G, Colombo A. Asphyxiating thoracic dysplasia in a lethal form: radiological and sonographic findings. Minerva Pediatr 2000;52:63-7.
  • 14. Tüysüz B, Barış S, Aksoy F, Madazlı R, Üngür S, Sever L. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: evaluation and classification of 13 patients. Am J Med Genet Part A 2009;149:1727-33.
  • 15. Vries JD, Yntema JL, Die CE, Crama N, Cornelissen EAM, Hamel BCJ. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr 2012;169:77- 88.

Jeune Syndrome with Proteinuria: A Case Report

Yıl 2013, Cilt: 11 Sayı: 2, 88 - 91, 01.09.2013
https://doi.org/10.4274/Jcp.11.09797

Öz

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

Kaynakça

  • 1. O’Connor MB, Gallagher DP, Mulloy E. Jeune Syndrome. Postgrad Med J. 2008;84:559.
  • 2. Jeune M, Beraud C, Carron R. Asphyxiating thoracic dystrophy with familial characteristics. Arch Fr Pediatr 1955;12:886-9.
  • 3. Jones KL. Smith’s recognizable patterns of human malformations. 5th ed. Philadelphia: Saunders; 1997. p. 374-5.
  • 4. Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A 2011;155:1021-32.
  • 5. Lachman RS. Asphyxiating thoracic dysplasia (ATD). In: Taybi H, Lachman RS (eds). Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4th ed. St. Louise: Mosby; 1996; p. 765-8.
  • 6. Oberklaid F, Danks DM, Mayne V, Campbell P Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child 1977;52:758-65.
  • 7. Yang SS, Langer LO Jr, Cacciarelli A, Dahms BB, Unger ER, Roskamp J, et al. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. Am J Med Genet Suppl 1987;3:191-207.
  • 8. Brueton LA, Dillon MJ, Winter RM. Ellis van Creveld syndrome, Jeune syndrome and renal hepatic pancreatic dysplasia: Separate entities or disease spectrum? J Med Genet 1990;7:252-5.
  • 9. Ho NC, Francomano CA, van Allen M. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (VermaNaumoff) are variants of the same disorder. Am J Med Genet 2000;90:310-4.
  • 10. Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, et al. A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. J Med Genet 2003;40:431-5.
  • 11. Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y. Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J Med Genet 1995;55:16-8.
  • 12. Özçay F, Derbent M, Demirhan B, Tokel K, Saatçi Ü. A family with Jeune syndrome. Pediatr Nephrol 2001;16:623-6.
  • 13. Poggiani C, Gasparoni MC, Mangili G, Colombo A. Asphyxiating thoracic dysplasia in a lethal form: radiological and sonographic findings. Minerva Pediatr 2000;52:63-7.
  • 14. Tüysüz B, Barış S, Aksoy F, Madazlı R, Üngür S, Sever L. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: evaluation and classification of 13 patients. Am J Med Genet Part A 2009;149:1727-33.
  • 15. Vries JD, Yntema JL, Die CE, Crama N, Cornelissen EAM, Hamel BCJ. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr 2012;169:77- 88.
Toplam 15 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Report
Yazarlar

Nurcan Cengiz Bu kişi benim

Buket Kılıçaslan Bu kişi benim

Tuba Canpolat Bu kişi benim

Şenay Demir Bu kişi benim

Aytül Noyan Bu kişi benim

Yayımlanma Tarihi 1 Eylül 2013
Yayımlandığı Sayı Yıl 2013 Cilt: 11 Sayı: 2

Kaynak Göster

APA Cengiz, N., Kılıçaslan, B., Canpolat, T., Demir, Ş., vd. (2013). Jeune Syndrome with Proteinuria: A Case Report. Güncel Pediatri, 11(2), 88-91. https://doi.org/10.4274/Jcp.11.09797
AMA Cengiz N, Kılıçaslan B, Canpolat T, Demir Ş, Noyan A. Jeune Syndrome with Proteinuria: A Case Report. Güncel Pediatri. Eylül 2013;11(2):88-91. doi:10.4274/Jcp.11.09797
Chicago Cengiz, Nurcan, Buket Kılıçaslan, Tuba Canpolat, Şenay Demir, ve Aytül Noyan. “Jeune Syndrome With Proteinuria: A Case Report”. Güncel Pediatri 11, sy. 2 (Eylül 2013): 88-91. https://doi.org/10.4274/Jcp.11.09797.
EndNote Cengiz N, Kılıçaslan B, Canpolat T, Demir Ş, Noyan A (01 Eylül 2013) Jeune Syndrome with Proteinuria: A Case Report. Güncel Pediatri 11 2 88–91.
IEEE N. Cengiz, B. Kılıçaslan, T. Canpolat, Ş. Demir, ve A. Noyan, “Jeune Syndrome with Proteinuria: A Case Report”, Güncel Pediatri, c. 11, sy. 2, ss. 88–91, 2013, doi: 10.4274/Jcp.11.09797.
ISNAD Cengiz, Nurcan vd. “Jeune Syndrome With Proteinuria: A Case Report”. Güncel Pediatri 11/2 (Eylül 2013), 88-91. https://doi.org/10.4274/Jcp.11.09797.
JAMA Cengiz N, Kılıçaslan B, Canpolat T, Demir Ş, Noyan A. Jeune Syndrome with Proteinuria: A Case Report. Güncel Pediatri. 2013;11:88–91.
MLA Cengiz, Nurcan vd. “Jeune Syndrome With Proteinuria: A Case Report”. Güncel Pediatri, c. 11, sy. 2, 2013, ss. 88-91, doi:10.4274/Jcp.11.09797.
Vancouver Cengiz N, Kılıçaslan B, Canpolat T, Demir Ş, Noyan A. Jeune Syndrome with Proteinuria: A Case Report. Güncel Pediatri. 2013;11(2):88-91.