Factor H deficiency and fibrillary glomerulopathy (original) (raw)
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An 18-year-old male with hematuria, renal insufficiency, and defective synthesis of type IV collagen
Kidney International, 2006
An 18-year-old white male presented to his primary care doctor with recent onset of headaches. The patient was found to have a blood pressure of 170/102 mm Hg. Urinalysis was significant for 4300 mg/dl of protein and 26-50 red cells/high power field. Laboratory evaluation revealed a serum creatinine 2.2 mg/dl. He was given metoprolol 50 mg/day and referred for nephrologic evaluation. The patient had no history of renal disease, urinary tract infections, recent sore throat, gross hematuria, arthralgias, or cutaneous manifestations. He was not taking any medications. He reported a 2-3 week history of headaches, intermittent edema, and fatigue. Past medical history was significant for a staphylococcus infection in infancy, which was treated with gentamicin. He had mild auditory impairment that had been attributed to gentamicin ototoxicity. There was no family history of renal disease. At the time of nephrologic evaluation, physical examination revealed a blood pressure of 170/120 mm Hg and 1 รพ lower extremity edema. Fundoscopic examination revealed dot hemorrhages and exudates in the left eye. Urinalysis was significant for a specific gravity of 1.015, a protein concentration 4300 mg/dl, 6-10 white blood cells/high power field, 20-50 red blood cells/high power field, and the absence of cellular casts. The urine protein to creatinine ratio was 8.467. Laboratory evaluation revealed a blood urea nitrogen of 23 mg/dl, creatinine 2.2 mg/dl, hematocrit 34.
Kidney International, 2007
A 49-year-old African-American female presented with acute renal failure. Her serum creatinine had increased from 0.8 to 2.8 mg/dl over 11 weeks. She had a 1-month history of anorexia, 20 lb weight loss, nausea, and vague abdominal discomfort. An outpatient evaluation included a renal ultrasound and magnetic resonance imaging of the abdomen, which were normal. Her past medical history was significant for a 12-year history of hypertension. There was no recent non-steroidal anti-inflammatory drug usage or radiocontrast study. Her medications included losartan 100 mg daily, amlodipine 2.5 mg daily, hydrochlorothiazide 25 mg daily, and potassium chloride 20 mEq daily.
Complement Factor H Deficiency and Posttransplantation Glomerulonephritis With Isolated C3 Deposits
American Journal of Kidney Diseases, 2008
We report the first cases of atypical hemolytic and uremic syndrome associated with complement factor H (CFH) deficiency in native kidneys and glomerulonephritis with isolated C3 deposits after kidney transplantation. Two boys developed atypical hemolytic and uremic syndrome at 16 and 11 months of age, associated with low C3 and CFH levels. Both rapidly progressed to end-stage renal failure and received a kidney transplant. Patient 1 had combined CFH and complement factor I (CFI) heterozygous mutations and a membrane cofactor protein (gene symbol, CD46) gene polymorphism. Five years posttransplantation, an allograft biopsy specimen showed numerous mesangial and extramembranous C3 deposits, although the patient had no biological sign of glomerulopathy. Nine years after transplantation, he was well with stable kidney function. Patient 2, who had a homozygous CFH mutation, developed glomerulonephritis with isolated C3 deposits 5 months after kidney transplantation while he was treated for early recurrence of hemolytic anemia. Four years later, the second kidney transplant biopsy specimen showed recurrence of thrombotic microangiopathy. Six years posttransplantation, kidney function was stable and complete blood cell count was normal with regular plasma therapy. These observations suggest that constitutional dysregulation of the alternative pathway is associated with a wide spectrum of kidney diseases, and glomerulonephritis with isolated C3 deposits and thrombotic microangiopathy may be different expressions of the same condition. Several factors could influence the disease, such as degree of CFH haploinsufficiency and other complement alternative pathway regulator abnormalities, such as a membrane cofactor protein polymorphism.
A rare case: childhood-onset C3 glomerulonephritis due to homozygous factor H deficiency
CEN Case Reports, 2013
C3 glomerulopathy is a recently described pathological entity including dense deposit disease and C3 glomerulonephritis (C3GN). In some cases, C3 glomerulopathy is associated with defects or even complete deficiency of factor H. However, complete factor H deficiency among patients with C3GN is rare, and paediatric cases have not yet been described. Here, we report a child with homozygous factor H deficiency who presented with haematuria and minor proteinuria, together with undetectable plasma C3 levels, at the age of 10 years. Kidney biopsy demonstrated C3GN. Detailed complement analysis revealed complete factor H deficiency due to a homozygous CFH mutation. Furthermore, there was a complete deletion of CFHR-1/-3. During follow-up, the patient has had recurrent episodes of macro-haematuria and minor proteinuria, but during 4 years of follow-up, no deterioration of renal function has been observed. Mutations of factor H in C3GN have been described; however, complete CFH deficiency is rare in these patients. Furthermore, clinical presentation usually occurs in adulthood. Therefore, this case presents a rare manifestation of the disease and might contribute to the early detection of similar cases also in childhood.
A 15-year-old girl with acute renal failure. Clinicopathologic conference
The Western journal of medicine, 1995
because for two months she had had nausea, vomiting, and malaise. Although the results of a routine urinalysis a year before her presentation had been normal, a urinalysis done by her private physician before admission showed 2+ glucose, 2+ protein, and numerous leukocytes. There was no history of recent analgesic or antibiotic administration. On physical examination she was thin, pale, pubertal, and appeared chronically ill. Her weight was 46 kg (101 lb), height 63 cm (5 ft 3 in), and blood pressure 130/80 mm of mercury. She had shotty left anterior cervical nodes. On examination of her abdomen, her liver could be palpated 2 cm below the right costal margin. The spleen tip was palpable on deep inspiration. Her extremities showed no edema. Laboratory values obtained on admission were as follows: serum sodium 139, potassium 3.3, chloride 102, and bicarbonate 16 mEq per liter; calcium, 2.50 mmol per liter (10.0 mg per dl); phosphorus, 2.07 mmol per liter (6.4 mg per dl); uric acid, 506 ,mol per liter (8.5 mg per dl); cholesterol, 4.40 mmol per liter (170 mg per dl); and glucose, 5.1 mmol per liter (92 mg per dl); liver function test values were normal. Blood urea nitrogen concentration was 41.1 mmol per liter (115 mg per dl), and serum creatinine level was 610 ,umol per liter (6.9 mg per dl). A urinalysis showed a specific gravity of 1.016, pH 6.0, 2+ protein, 1+ glucose, 0 to 50 leukocytes per high-power field, 0 to 2 coarse granular casts, and 2 to 5 granular casts. Urine chemistry levels were as follows: sodium, 59 mmol per day (59 mEq per 24 hours); and potassium, 35 mmol per day (35 mEq per 24 hours). A complete blood count elicited the following values: hemoglobin, 84 grams per liter (8.4 grams per dl), hematocrit, 0.24 (24%); mean corpuscular volume, 82 fl (82 VLm3); mean