Key result
Genetic testing revealed a LAMB2 mutation, confirming a diagnosis of Pierson syndrome in a child whose clinical and histological presentation initially mimicked Alport syndrome.
Case Report (n=1)
No
A child presenting with clinical and histological features mimicking Alport syndrome may actually have Pierson syndrome, highlighting the importance of genetic testing (LAMB2 genotyping) for accurate diagnosis.
May prompt genetic testing for LAMB2 in nephrotic cases with Alport-like biopsy; leaves open validation in larger cohorts.
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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Santa et al. (2023) conducted a case report in Pierson syndrome (n=1). Genetic testing (LAMB2 genotyping) was evaluated on Genetic diagnosis. Genetic testing revealed a LAMB2 mutation, confirming a diagnosis of Pierson syndrome in a child whose clinical and histological presentation initially mimicked Alport syndrome.
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