Pierson syndrome

A rare syndrome characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

Nephrotic syndrome

Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.


Total: 3

                       


(per page)
PMID (PMCID)
28188379
(5352804)
 FEMALE Child
A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure.
Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ.
Eur J Pediatr. 2017;176(4):515-519.
The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity.
27925579
 FEMALE Infant
LAMB2 mutation with different phenotypes in China
.
Zhang H, Cui J, Wang F, Xiao H, Ding J, Yao Y.
Clin Nephrol. 2017;87 (2017)(1):33-38.
The phenotypes caused by LAMB2 mutation were variable, mainly Pierson syndrome, as well as isolated nephrotic syndrome without ocular involvement.
24032283
 FEMALE Infant, Newborn
A novel mutation of laminin beta-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.
Aydin B, Ipek MS, Ozaltin F, Zenciroglu A, Dilli D, Beken S, Okumus N, Hosagasi N, Saygili-Karagol B, Kundak A, Renda R, Aydog O.
Genet Couns. 2013;24(2):141-7.
A novel mutation of laminin 946-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.