Gaucher disease is an autosomal recessive genetic disorder, with membranoproliferative glomerulonephritis (MPGN) being a rare complication. Here we present a case of type I Gaucher disease complicated with MPGN to improve the understanding of this disease. For patients presenting with abdominal distension, hepatosplenomegaly and myelofibrosis, Gaucher disease should be considered to avoid misdiagnosis and inappropriate treatment. The detection of β-glucosidase, genetic mutation analysis and histopathological examination can play crucial roles in the diagnosis of Gaucher disease. Treatment with glucocorticoids combination with immunosuppressants can improve patient's prognosis.

Gaucher disease is an autosomal recessive genetic disorder, with membranoproliferative glomerulonephritis (MPGN) being a rare complication. Here we present a case of type I Gaucher disease complicated with MPGN to improve the understanding of this disease. For patients presenting with abdominal distension, hepatosplenomegaly and myelofibrosis, Gaucher disease should be considered to avoid misdiagnosis and inappropriate treatment. The detection of β-glucosidase, genetic mutation analysis and histopathological examination can play crucial roles in the diagnosis of Gaucher disease. Treatment with glucocorticoids combination with immunosuppressants can improve patient's prognosis.