Familial collapsing glomerulopathy: Clinical, pathological and immunogenetic features

Abstract

Background. Collapsing glomerulopathy (CG) is an aggressive form of glomerular injury frequently seen in association with HIV infection, although it is also recognized in non-HIV patients as a primary disease. Until now, the occurrence of CG in a familial pattern has not been reported. Methods. We studied five members of a family (siblings), admitted for evaluation of proteinuria and nephrotic syndrome. They had no other family history of renal disease. Blood samples for major histocompatibility complex (MHC) analysis were obtained from the five siblings, both parents and four relatives. Results. Renal biopsy performed in four out of the five siblings revealed capillary collapse and retraction with visceral epithelial cell swelling and reabsorption droplets, consistent with CG. Two of the patients had suggestive symptoms of systemic lupus erythematosus, such as arthritis, rash, hair loss, moderate leukopenia and lymphopenia, low titers of antinuclear antibodies (ANA) and anti-SSA/Ro antibodies, but no immune complex deposition on renal biopsy. IgG serology for parvovirus B19 (PVB-19) was positive only in two siblings but polymerase chain reaction (PCR) was negative. Immunogenetic analysis showed that all patients shared the same MHC haplotype inherited from the mother. Conclusions. CG can present in a familial pattern. Since a similar MHC haplotype was observed in affected and non-affected members of the family, we conclude that the environment plays an important role in the development of the disease.