Nephrotic syndrome accompanying familial hemophagocytic syndrome.

OBJECTIVE

We describe the first reported case of familial hemophagocytic syndrome (FHS) with concurrent minimal change nephrotic syndrome (MCNS).

METHODS

This is a case report of a 30-month-old girl who presented to Children's Memorial Hospital with pancytopenia and heavy proteinuria.

RESULTS

This patient presented with anemia, neutropenia, thrombocytopenia, hypertriglyceridemia, and proteinuria. A brother died at 2 months of age with similar findings. A bone marrow biopsy demonstrated histiocyte proliferation with marked erythrophagocytosis, consistent with FHS. Treatment was begun with corticosteroids and VP-16. The patient developed worsening peripheral edema and hypoalbuminemia, with heavy proteinuria. After 1 month of therapy with persistence of heavy proteinuria, a renal biopsy was performed, the results of which were consistent with MCNS.

CONCLUSIONS

This is the first reported case of FHS with coincident MCNS.