We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in COL7A1 Gene.
- Authors
Daniel, Roshan; Dawman, Lesa; Nada, Ritambhra; Sekar, Aravind; Mahajan, Rahul; Tiewsoh, Karalanglin
- Abstract
Secondary amyloidosis may complicate inherited dermatoses, but recessive dystrophic epidermolysis bullosa (RDEB) complicated by renal amyloidosis is rare. We report a case of a 12-year-old male child with RDEB presenting with progressive generalized anasarca for 20 days. Kidney biopsy showed diffuse expansion of mesangial matrix by pale acellular Periodic Acid-Schiff (PAS)-negative amorphous material, which was congophilic on Congo red stain and gave apple green birefringence on polarization and extending along the glomerular basement membrane, suggestive of amyloidosis. Genetic analysis showed a compound heterozygous pathogenic variant in the COL7A1 gene with autosomal recessive inheritance.
- Subjects
AMYLOIDOSIS treatment; STEROID drugs; AMYLOIDOSIS diagnosis; KIDNEY disease diagnosis; KIDNEY disease treatments; BIOPSY; EPIDERMOLYSIS bullosa; EDEMA; IMMUNOGLOBULINS; GENES; GLOMERULONEPHRITIS; AMYLOID; URINALYSIS; COLLAGEN; GENETIC mutation; KIDNEYS; GENETIC testing; SEQUENCE analysis; IMMUNOMODULATORS; DISEASE complications; CHILDREN
- Publication
Indian Journal of Nephrology, 2024, Vol 34, Issue 4, p400
- ISSN
0971-4065
- Publication type
Article
- DOI
10.4103/ijn.IJN_26_21