vitamin-b-12 and Hypertension--Renal

Cobalamin C (CblC) defects are inherited autosomal recessive disorders of vitamin B12 metabolism due to mutations in the MMACHC gene. Renal manifestations include thrombotic microangiopathy (TMA), acute or chronic renal failure, tubulointerstitial nephritis, and proximal renal tubular acidosis. However, reports about glomerular pathologies are scarce.. A 4-year-old boy presented with nephrotic syndrome, arterial hypertension, and chronic anemia but no signs of hemolysis. Renal biopsy showed TMA with ischemic glomerular collapse, foot process effacement, and tubulointerstitial fibrosis. Elevated serum levels of homocysteine suggested a cobalamin C disorder. This was confirmed by the identification of compound heterozygous mutations in the MMACHC gene. Initial therapy consisted of antihypertensive treatment including angiotensin converting enzyme inhibitor (ACEi) leading to blood pressure control and a significant reduction of proteinuria. After a definite diagnosis of CblC deficiency, hydroxocobalamin was introduced. Thereafter, homocysteine levels decreased, anemia resolved, and a further decline of proteinuria with normalization of serum protein levels was noted. Renal function remained stable.. Although uncommon, the clinical picture of CblC defects may be ruled by nephrotic syndrome mimicking glomerulonephritis, minimal change disease, or primary focal and segmental glomerulosclerosis. Key to a correct diagnosis is elevated serum levels of homocysteine, and a definite diagnosis can be confirmed by genetic testing.

Topics: Anemia; Angiotensin-Converting Enzyme Inhibitors; Biopsy; Carrier Proteins; Child, Preschool; Homocysteine; Humans; Hydroxocobalamin; Hypertension, Renal; Kidney; Male; Nephrotic Syndrome; Oxidoreductases; Thrombotic Microangiopathies; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Case-Control Studies; Creatinine; Folic Acid; Genotype; Glomerular Filtration Rate; Homocysteine; Humans; Hyperhomocysteinemia; Hypertension, Renal; Ischemia; Methylenetetrahydrofolate Reductase (NADPH2); Nephrons; Renal Artery Obstruction; Vitamin B 12

Topics: Aged; Anemia, Pernicious; Angiography; Arteriovenous Fistula; Female; Heart Failure; Heart Murmurs; Humans; Hypertension, Renal; Nephrectomy; Renal Artery; Subtraction Technique; Urography; Vitamin B 12

Topics: Aminohippuric Acids; Blood Flow Velocity; Diuresis; Glomerular Filtration Rate; Humans; Hypertension, Renal; Inulin; Iodopyracet; Kidney; Kidney Diseases; Kidney Function Tests; Thiosulfates; Vitamin B 12

Topics: Adult; Aged; Cobalt Isotopes; Diuresis; Diuretics; Female; Glomerular Filtration Rate; Humans; Hypertension; Hypertension, Renal; Iodine Isotopes; Iodohippuric Acid; Kidney Function Tests; Male; Mannitol; Middle Aged; Pyelonephritis; Renal Artery Obstruction; Urea; Vasopressins; Vitamin B 12

Topics: Cobalt Isotopes; Creatine; Creatinine; Diagnosis; Glomerular Filtration Rate; Gout; Humans; Hypertension; Hypertension, Renal; Injections, Intravenous; Inulin; Kidney; Kidney Diseases; Kidney Function Tests; Uric Acid; Urine; Vitamin B 12; Vitamins