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Familial collapsing glomerulopathy: clinical, pathological and immunogenetic features
M Carmen Avila-Casado1, Gilberto Vargas-Alarcon, Maria E Soto
1Department of Pathology, Instituto Nacional de CardiologiaIgnacio Chavez, Universidad Nacional Autonoma de Mexico, Mexico DF, Mexico. mcavila@cardiologia.org.mx
Kidney International
|December 11, 2002
Summary
Collapsing glomerulopathy (CG) can occur in families. Environmental factors likely play a significant role in its development, even among individuals with shared genetic markers.
Area of Science:
- Nephrology
- Genetics
- Immunology
Background:
- Collapsing glomerulopathy (CG) is a severe kidney disease often linked to HIV but also seen in non-HIV patients.
- Familial occurrence of CG has not been previously documented.
Observation:
- A family of five siblings presented with proteinuria and nephrotic syndrome.
- Renal biopsies confirmed collapsing glomerulopathy in four siblings.
- Two siblings exhibited lupus-like symptoms, and two had positive parvovirus B19 IgG, though PCR was negative.
Findings:
- All affected siblings shared a common major histocompatibility complex (MHC) haplotype.
- Despite shared MHC haplotypes, not all family members developed CG, suggesting environmental influence.
Implications:
- This study demonstrates that collapsing glomerulopathy can manifest in a familial pattern.
- Environmental factors are crucial in the pathogenesis of CG, interacting with genetic predisposition.