[Familial pulmonary hemorrhage and lupus syndrome with C4 deficiency]

A six year old girl developed severe pulmonary hemorrhage following appendectomy. Clinical findings and results of immunfluorescence studies of skin, lung and renal biopsy specimens were consistent with systemic lupus erythematosus (SLE). A sister also had hemoptyses and a lupus syndrome. Both girls, but none of the other siblings or parents, were shown to have a partial C4 deficiency. A review of the literature disclosed 13 pediatric cases of SLE with pulmonary hemorrhages. In none of these cases was congenital C4 deficiency reported (although C4 deficiency is known to induce autoimmune diseases, including lupus). Our two patients are therefore the first reported cases of SLE with pulmonary hemorrhage and a partial congenital C4 deficiency.