BibTex RIS Cite

Waardenburg Syndrome and nephrotic syndrome coexistence

Year 2015, Volume: 6 Issue: 1, 41 - 42, 27.04.2015

Abstract

Waardenburg syndrome is an inherited syndrome often characterized by varying degrees of hearing loss, changes in skin and hair pigmentations. In the literature, the association of Waardenburg syndrome and renal anomaly is extremely rare. A 32-year-old male patient was admitted to the our clinic with complaints of swelling in face, eye area and legs who was previously diagnosed with Waardenburg syndrome. Renal biopsy was performed to patient and the biopsy result was reported as minimal change disease. Prednisolone at 1mg/kg/day was initiated to patient and treatment was continued for 5 months with reducing doses. The patient was in remission at the end of the year. We report a case with assosiation of Waardenburg syndrome and glomerular pathology.

References

  • Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of iris and head hair and with congenital deafness. Am J Hum Genet 1951; 3:195-203.
  • Eyibilen A, Bulut S. Waardenburg Sendromu. Fırat Tıp Dergisi 2004; 9: 93-95.
  • Newton VE. Waardenburg syndrome. J Med Genet 1997; 34: 656-665. 4. Finkelstein FO, Hayslett JP. Nephrotic syndrome: etiology, diagnosis, and treatment. Geriatrics. 1976; 31(8): 39-44, 48.
  • Mason PD. Minimal Change Disease. In: Feehally J, Floege J, Johnson RJ (Editors). Comprehensive Clinical Nephrology. 3rd edition, Mosby , 2007; 209-216.
  • Kaplan P, de Chaderevian JP. Piebaldism-Waardenburg Syndrome: histopathologic evidence for a neural crest syndrome. Am J Med Genet 1988; 31: 679-688.
  • Jankauskiene A, Dodat H, Deiber M, Rosenberg D, Cochat P. Multicystic dysplastic kidney associated with Waardenburg syndrome type 1. Pediatr Nephrol. 1997; 11(6): 744-745.
  • Ekinci S, Ciftci AO, Senocak ME, Büyükpamukçu N. Waardenburg syndrome associated with bilateral renal anomaly. J Pediatr Surg 2005; 40: 879-881.

Waardenburg Sendromu ve nefrotik sendrom birlikteliği

Year 2015, Volume: 6 Issue: 1, 41 - 42, 27.04.2015

Abstract

Waardenburg Sendromu sıklıkla farklı derecelerde işitme kaybı, saç ve deride pigmentasyon değişiklikleri ile karakterize kalıtsal bir sendromdur. Waardenburg Sendromunda böbrek anomalileri nadiren bildirilmiş olup, nefrotik sendrom olgusuna rastlanmamıştır. Waardenburg Sendromu tanısı olan 32 yaşındaki erkek hasta yüz, göz çevresi ve bacaklarda şişlik şikayeti ile kliniğimize başvurdu. Klinik ve laboratuar verileriyle nefrotik sendrom tanısı alan hastaya yapılan böbrek biyopsisi sonucu minimal değişiklik hastalığı olarak raporlandı. Kortikosteroid tedavisi ile 10.günde remisyon sağlandı, doz azaltılarak 5 ay tedaviye devam edildi. İlk yılın sonunda hasta hala remisyonda idi. Burada Waardenburg Sendromu ve glomerüler patolojinin birlikte olduğu bir olgu sunulmuştur.

References

  • Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of iris and head hair and with congenital deafness. Am J Hum Genet 1951; 3:195-203.
  • Eyibilen A, Bulut S. Waardenburg Sendromu. Fırat Tıp Dergisi 2004; 9: 93-95.
  • Newton VE. Waardenburg syndrome. J Med Genet 1997; 34: 656-665. 4. Finkelstein FO, Hayslett JP. Nephrotic syndrome: etiology, diagnosis, and treatment. Geriatrics. 1976; 31(8): 39-44, 48.
  • Mason PD. Minimal Change Disease. In: Feehally J, Floege J, Johnson RJ (Editors). Comprehensive Clinical Nephrology. 3rd edition, Mosby , 2007; 209-216.
  • Kaplan P, de Chaderevian JP. Piebaldism-Waardenburg Syndrome: histopathologic evidence for a neural crest syndrome. Am J Med Genet 1988; 31: 679-688.
  • Jankauskiene A, Dodat H, Deiber M, Rosenberg D, Cochat P. Multicystic dysplastic kidney associated with Waardenburg syndrome type 1. Pediatr Nephrol. 1997; 11(6): 744-745.
  • Ekinci S, Ciftci AO, Senocak ME, Büyükpamukçu N. Waardenburg syndrome associated with bilateral renal anomaly. J Pediatr Surg 2005; 40: 879-881.
There are 7 citations in total.

Details

Primary Language Turkish
Journal Section Olgu Sunumları
Authors

İrem Yiğit This is me

Ali Gürel

Bilge Aygen This is me

Ramazan Ulu

Ayhan Doğukan This is me

Publication Date April 27, 2015
Submission Date September 10, 2013
Published in Issue Year 2015 Volume: 6 Issue: 1

Cite

Vancouver Yiğit İ, Gürel A, Aygen B, Ulu R, Doğukan A. Waardenburg Sendromu ve nefrotik sendrom birlikteliği. Süleyman Demirel Üniversitesi Sağlık Bilimleri Dergisi. 2015;6(1):41-2.

SDÜ Sağlık Bilimleri Dergisi, makalenin gönderilmesi ve yayınlanması dahil olmak üzere hiçbir aşamada herhangi bir ücret talep etmemektedir. Dergimiz, bilimsel araştırmaları okuyucuya ücretsiz sunmanın bilginin küresel paylaşımını artıracağı ilkesini benimseyerek, içeriğine anında açık erişim sağlamaktadır.