Human Factor H Deficiency

Factor H deficiency and fibrillary glomerulopathy.

A 12-month-old boy presented to a local hospital with periorbital oedema and microscopic haematuria. He was pale and hypertensive and had low serum complement C3. He was treated for and followed with the diagnosis of acute post-streptococcal glomerulonephritis. The patient’s parents were second-degree relatives of each other, but his family history was entirely negative for renal disease, hyper...

A Pregnant Woman with Factor V Deficiency

Jaundice and factor VII deficiency in newborn

Resistance to thyroid hormone is an uncommon condition. We report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. RTH is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary TSH secretion and refractoriness to hormone action in peripheral tiss...

Complement factor H deficiency accelerates development of lupus nephritis.

Complement factor H (CfH) is a key regulator of the alternative pathway, and its presence on mouse platelets and podocytes allows the processing of immune complexes. Because of the role of immune complexes in the pathophysiology of lupus nephritis, we studied the role of CfH in the development of nephritis in MRL-lpr mice, an animal model of lupus. At 12 weeks, CfH-deficient MRL-lpr mice had si...

Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency.

BACKGROUND In a recent study of three families we have found that inherited haemolytic uraemic syndrome (HUS) maps to a region of chromosome 1q containing the gene for complement factor H. In one of these families and also in a case of sporadic D-HUS, we have identified mutations in the factor H gene. A further family with inherited HUS has therefore been investigated. METHODS DNA extracted f...