A case of mild variant of Pierson syndrome
Abstract
Congenital nephrotic syndrome (CNS) comprises a heterogeneous group of conditions having in common the disruption of normal glomerular permselectivity, and carries a poor prognosis, with most patients progressing to end stage renal disease. Recently mutations in the LAMB2 gene encoding b2 laminin were described as the cause of Pierson syndrome that is characterized by CNS and a complex ocular maldevelopment with microcoria as the most prominent clinical feature. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. We report on a patient with CNS, high grade myopia, and structural eye anomalies including remnants of pupilla membranes, but no microcoria. The patient did not develop renal failure by the age of 11 months and showed no neurodevelopmental deficits. He turned out to be homozygous for a novel LAMB2 missense mutation. This observation together with two recent reports on milder variants of Pierson syndrome corroborates the concept that the clinical expression of Pierson syndrome is more variable, and that milder phenotypes may be related to hypomorphic LAMB2 alleles.
About the Authors
M. Iu. Kagan
ГУЗ Областная детская клиническая больница г. Оренбург
Russian Federation
Russian Federation
N. N. Bervina
ГУЗ Областная детская клиническая больница г. Оренбург
Russian Federation
Russian Federation
A. A. Janetova
ГУЗ Областная детская клиническая больница г. Оренбург
Russian Federation
Russian Federation
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Review
For citations:
Kagan M.I., Bervina N.N., Janetova A.A. A case of mild variant of Pierson syndrome. Nephrology and Dialysis. 2007;9(2):198-202. (In Russ.)
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