Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene.
LAMA5 gene
Congenital nephrotic syndrome
Diffuse mesangial sclerosis
Journal
Pediatric nephrology (Berlin, Germany)
ISSN: 1432-198X
Titre abrégé: Pediatr Nephrol
Pays: Germany
ID NLM: 8708728
Informations de publication
Date de publication:
May 2024
May 2024
Historique:
received:
14
08
2023
accepted:
31
10
2023
revised:
30
10
2023
medline:
18
3
2024
pubmed:
21
11
2023
entrez:
20
11
2023
Statut:
ppublish
Résumé
A two-and-a-half-month-old female infant presented with generalized edema for 10 days. At presentation, she had periorbital puffiness, moderate ascites, and pedal edema. Laboratory investigations revealed serum albumin 1.3 g/dL, spot urine protein to creatinine ratio (Up:Uc) 20.87 mg/mg, total cholesterol 380 mg/dL, and serum creatinine 0.31 mg/dL. Exome sequencing revealed compound heterozygous variants in LAMA5 gene (NM_005560.6). There was a heterozygous likely pathogenic missense variant in exon 2: LAMA5: c.385C > A (depth 195 ×) and another heterozygous pathogenic variant in exon 31: LAMA5: c.3932_3936dup; parental segregation by Sanger sequencing proved that the variants were in trans. Kidney biopsy showed diffuse mesangial sclerosis (DMS). Our case adds LAMA5 gene to the constellation of genes causing DMS, in addition to the classically described WT1, LAMB2, and PLCE1 genes and to the list of genes causing congenital nephrotic syndrome (CNS).
Identifiants
pubmed: 37985485
doi: 10.1007/s00467-023-06223-2
pii: 10.1007/s00467-023-06223-2
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1421-1425Informations de copyright
© 2023. The Author(s), under exclusive licence to International Pediatric Nephrology Association.
Références
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pmcid: 8986055
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pubmed: 29534211
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