Waardenburg Syndrome and nephrotic syndrome coexistence

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.

Keywords

• Waardenburg syndrome, nephrotic syndrome, minimal change disease

Waardenburg Sendromu ve nefrotik sendrom birlikteliği

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.

Keywords

• Waardenburg Sendromu, nefrotik sendrom, minimal değişiklik hastalığı

References

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