Abstract
A C1q deficiency with cutaneous and renal disease was found in three siblings. Two brothers and a sister aged 12, 11 and 9 years old, with clinical features resembling those of Rothmund-Thomson Syndrome were studied because of episodes of gross hematuria in two patients and microscopic in the other.
Renal function and cryoglobulins were normal, serum IgM was elevated and RF was positive in all three. ANA wore only detected in two patients. Serologic studies showed a total lack of CH50 hemolytic activity, undetectable C1q and restoration of the defect when purified human C1q was added to the assay. Mesangial Proliferative Glomerulonephritis with diffuse glomerular deposits of IgM and C3 was seen by renal biopsy and cutaneous hystological studies were those of Rothmund-Thomson Syndrome in all three patients. No clinical and serologic abnormalities were found in the mother and in the remainder three other siblings. The father presented ANA at a low tittle and a serum C1q decreased to a 50% of its normal value. 106 members of the family tested against any cutaneous or renal clinical symptoms were normal.
A familial incidence of three not previously reported combined diseases has been found. Serologic data and the renal affectation highly suggest a SLE-like connective tissue disease, in which the congenital lack of C1q seems to be the predominant factor.
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Ecija, J., Sanchez-Bayle, M., Mampaso, F. et al. FAMILIAL C1Q DEFICIENCY WITH GLOMERULONNPHRITIS AND CUTANEOUS DISEASE IN THREE SIBLINGS. Pediatr Res 14, 995 (1980). https://doi.org/10.1203/00006450-198008000-00134
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DOI: https://doi.org/10.1203/00006450-198008000-00134