ABSTRACT
BACKGROUND: Nephrotic syndrome occurring as a complication of immune tolerance therapy for inhibitors in hemophilia B is well recognized. It is also known to occur in association with factor borne infections, especially hepatitis C. This is the first case report of nephrotic syndrome occurring in a child receiving prophylactic factor VIII in the absence of inhibitors of hepatitis infection. However, the pathophysiology of this phenomenon is poorly understood. CASE PRESENTATION: A 7-year Sri Lankan boy diagnosed with severe hemophilia A on weekly factor VIII prophylaxis was diagnosed with three episodes of nephrotic syndrome, a condition in which there is leakage of plasma protein into urine. He had three episodes of nephrotic syndrome, all of which responded well to 60 mg/m2 daily dose of oral steroids, achieving remission within 2 weeks of starting daily prednisolone. He has not developed inhibitors for factor VIII. His hepatitis screening remained negative. CONCLUSIONS: There is a possible link between factor therapy for hemophilia A and nephrotic syndrome, which can be a T-cell-mediated immune response. This case also highlights the importance of monitoring for renal involvement in patients treated with factor replacement.
Subject(s)
Hemophilia A , Hemophilia B , Nephrotic Syndrome , Male , Humans , Child , Hemophilia A/complications , Hemophilia A/diagnosis , Hemophilia A/drug therapy , Factor VIII/therapeutic use , Nephrotic Syndrome/diagnosis , Nephrotic Syndrome/drug therapy , Nephrotic Syndrome/etiology , Hemophilia B/therapy , Prednisolone/therapeutic useABSTRACT
Lipoprotein lipase (LPL) deficiency is an extremely rare disorder of lipid metabolism known to cause hypertriglyceridaemia in childhood. We report the incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory tract infection. The patient was initially treated for a lower respiratory tract infection, but was subsequently found to have milky appearance of the serum, with a triglyceride concentration greater than 1000 mg/dL. Clinical examination revealed hepatosplenomegaly. Genetic analysis showed that the patient was a compound heterozygote for two rare likely pathogenic LPL variants c.808C>G p.(Arg270Gly) and c.1019-3C>G. She was commenced on a low-fat diet with the addition of medium chain triglyceride formula. At follow-up, her serum triglyceride level was normal.
