Pierson Syndrome Characterized by Mild Renal Variant: A Case Report

BÜYÜKKARAGÖZ B., BAKKALOĞLU EZGÜ S. A., ÖZMEN M. C., EZGÜ F. S.

GAZI MEDICAL JOURNAL, cilt.32, sa.3, ss.461-463, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.12996/gmj.2021.106
  • Dergi Adı: GAZI MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier
  • Sayfa Sayıları: ss.461-463
  • Anahtar Kelimeler: Pierson syndrome, child, nephrotic range proteinuria, mild renal variant, CONGENITAL NEPHROSIS, MICROCORIA, MUTATION
  • Gazi Üniversitesi Adresli: Evet

Özet

Pierson syndrome is a rare pediatric disease characterized most commonly by congenital nephrotic syndrome and ocular and neurologic abnormalities. On the other hand, it is known that the severity of the clinical spectrum can be variable. Herein, 1.5-year old child with severe ocular findings and proteinuria who was genetically diagnosed as Pierson syndrome is presented. During the follow-up for a duration of 8 years, it is noteworthy that the patient had no renal involvement other than nephrotic range proteinuria. As our case demonstrates the mild renal variant of Pierson syndrome, the presence of this rare type of presentation should always be kept in mind.