Pierson syndrome presenting as Alport syndrome: A case report

Authors

  • Samina Masud Santa Department of Paediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Tahmina Akter Diba Department of Paediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Abdullah Al Mamun Department of Paediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Afroza Begum Department of Paediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Syed Saimul Haque Department of Paediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/bsmmuj.v16i3.68478

Keywords:

Pierson syndrome, Alport syndrome

Abstract

Pierson syndrome is an autosomal recessive disorder, characterised by congenital nephrotic syndrome and progressive renal failure. Patient of this  syndrome may have some ocular abnormalities. We report a 46 month old girl with Pierson syndrome whose renal  biopsy showed features suggestive of Alport syndrome. Genetic study report showed laminin b2 (LAMB2) mutation which presents as nephrotic syndrome, type 5 with or without ocular abnormalities and Pierson syndrome, and tripartite motif containing8 (TRIM8) mutation which presents with focal segmental glomerulosclerosis and neurodevelopmental syndrome. The patient was given supportive therapy.

Bangabandhu Sheikh Mujib Medical University Journal 2023;16(3): 178-181

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Published

2023-09-27

How to Cite

Santa, S. M., Diba, T. A., Mamun, A. A., Begum, A., & Haque, S. S. . (2023). Pierson syndrome presenting as Alport syndrome: A case report. Bangabandhu Sheikh Mujib Medical University Journal, 16(3), 178–181. https://doi.org/10.3329/bsmmuj.v16i3.68478

Issue

Section

Case Report

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