hydroxocobalamin and Anemia

Topics: Adolescent; Adult; Anemia; Anemia, Hemolytic; Anemia, Hypochromic; Female; Ferritins; Ferrous Compounds; Folic Acid; Folic Acid Deficiency; Humans; Hydroxocobalamin; Iron; Middle Aged; Pregnancy; Pregnancy Complications, Hematologic; Vitamin B 12 Deficiency

Topics: Anemia; Anemia, Aplastic; Anemia, Hypochromic; Anemia, Macrocytic; Anemia, Pernicious; Anemia, Sideroblastic; Ascorbic Acid Deficiency; Avitaminosis; Blood Protein Disorders; Hormones; Humans; Hydroxocobalamin; Vitamins

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

cblC disease is a cause of hemolytic uremic syndrome (HUS), which has been primarily described in neonates and infants with severe renal and neurological lesions.. Two sisters aged 6 and 8.5 years presented with a latent hemolytic process characterized by undetectable or low plasma haptoglobin, respectively, associated with renal failure and gross proteinuria. Renal biopsies performed in both patients found typical findings of thrombotic microangiopathy suggesting the diagnosis of HUS. Both patients were free of neurologic signs.. Biochemical investigations found a cobalamin processing deficiency of the cblC type. Search for additional factors susceptible to worsen endothelial damage revealed homozygosity 677C--> T mutation in the methylenetetrahydrofolate reductase gene as well as heterozygosity for a 3254T--> C mutation in factor H in the patient with the most severe clinical presentation. Long-term subcutaneous administration of hydroxocobalamin in combination with oral betaine and folic acid resulted in clinical and biological improvement in both patients.. cblC disease may be a cause of chronic HUS with delayed onset in childhood. Superimposed mutation of factor H gene might influence clinical severity.

Topics: Anemia; Betaine; Child; Combined Modality Therapy; Complement Factor H; Drug Therapy, Combination; Endothelium, Vascular; Female; Folic Acid; Genetic Predisposition to Disease; Genotype; Haptoglobins; Hemolytic-Uremic Syndrome; Humans; Hydroxocobalamin; Hypertension; Kidney; Methylenetetrahydrofolate Reductase (NADPH2); Mutation, Missense; Nephrotic Syndrome; Plasma Exchange; Point Mutation; Proteinuria; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-cbl; Renal Dialysis; Vitamin B 12

A prospective study of 60 consecutively admitted patients with HIV infection was performed to document the prevalence, etiology and manifestations of low serum vitamin B-12 in such patients. Low serum B-12 levels were found in 10 patients (16.7%). In 6, vitamin B-12 absorption was impaired and hog intrinsic factor addition did not improve it. Patients with low vitamin B-12 levels showed lower hemoglobin, leukocytes, lymphocytes, CD4 lymphocytes and CD4/CD8 lymphocyte ratio than HIV patients with physiological serum vitamin B-12 levels. However, bone marrow megaloblastosis was found in only 3 low vitamin B-12 patients and the deoxyuridine suppression test was pathological in only 1 case. In 7 patients, parenteral treatment was begun with variable response despite serum vitamin B-12 correction. In conclusion, low serum vitamin B-12 is often found in HIV-infected patients and it could be related to malabsorption, but clear megaloblastic abnormalities and treatment response could not be demonstrated. A decreased concentration of the serum binders due to disturbances in the leukocytes and related immunocompetent cell may play an additional role.

Topics: Adult; Anemia; Female; Gastric Acid; HIV Infections; Humans; Hydroxocobalamin; Intrinsic Factor; Leukocyte Count; Male; Prospective Studies; Vitamin B 12

Topics: Aged; Anemia; Anemia, Aplastic; Anemia, Hemolytic; Anemia, Hypochromic; Blood Transfusion; Diet; Female; Folic Acid; Folic Acid Deficiency; Humans; Hydroxocobalamin; Iron; Male; Middle Aged; Vitamin B 12 Deficiency

Topics: Adult; Aged; Anemia; Brain Diseases; Epilepsy; Facial Paralysis; Fatty Liver; Female; Hemiplegia; Herpes Zoster; Humans; Hydroxocobalamin; Joint Diseases; Male; Middle Aged; Myelitis; Nervous System Diseases; Nutrition Disorders; Optic Neuritis; Polyneuropathies; Psychoses, Alcoholic; Pyridoxine; Sciatica; Thiamine

Topics: Anemia; Animals; Coenzymes; Dogs; Hydroxocobalamin; Liver; Male; Rabbits; Rats; Vitamin B 12

Topics: Anemia; Anemia, Aplastic; Anemia, Pernicious; Blood Transfusion; Bone Marrow Examination; Clinical Laboratory Techniques; Cobalt; Drug Therapy; Erythrocytes; Humans; Hydroxocobalamin; Prednisone; Pyridoxine; Riboflavin; Testosterone; Vitamin B 12

Topics: Anemia; Anemia, Macrocytic; Cobalt Isotopes; Drug Therapy; Fluids and Secretions; Humans; Hydroxocobalamin; Metabolism; Urine; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anemia; Anemia, Pernicious; Delayed-Action Preparations; Drug Therapy; Hematinics; Humans; Hydroxocobalamin; Vitamin B 12

Topics: Anemia; Anemia, Macrocytic; Drug Therapy; Humans; Hydroxocobalamin

Topics: Anemia; Anemia, Pernicious; Blood Chemical Analysis; Hematinics; Humans; Hydroxocobalamin; Urine; Vitamin B 12

Topics: Anemia; Anemia, Pernicious; Corrinoids; Folic Acid; Hematinics; Humans; Hydrochloric Acid; Hydroxocobalamin; Liver Extracts; Perception; Stomach; Tissue Extracts; Vitamin B 12

Topics: Anemia; Anemia, Pernicious; Blood Chemical Analysis; Creatine; Creatinine; Humans; Hydroxocobalamin; Injections; Injections, Intramuscular; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex

Topics: Anemia; Anemia, Pernicious; Blood Chemical Analysis; Erythrocyte Count; Geriatrics; Humans; Hydroxocobalamin

Topics: Anemia; Anemia, Pernicious; Drug Therapy; Hematinics; Humans; Hydroxocobalamin; Vitamin B 12

Topics: Anemia; Anemia, Pernicious; Blood Chemical Analysis; Blood Proteins; Corrinoids; Humans; Hydroxocobalamin; Injections, Intramuscular; Metabolism; Urine; Vitamin B 12

Topics: Anemia; Anemia, Pernicious; Drug Therapy; Humans; Hydroxocobalamin

Topics: Anemia; Anemia, Pernicious; Humans; Hydroxocobalamin; Tracheophyta

Topics: Anemia; Anemia, Macrocytic; Anemia, Pernicious; Diabetic Neuropathies; Hematinics; Humans; Hydrogen Cyanide; Hydroxocobalamin; Neuritis; Vitamin B 12; Vitamin B Complex

Topics: Anemia; Anemia, Pernicious; Diagnosis; Gastroenterology; Humans; Hydroxocobalamin; Kidney Diseases; Schilling Test; Vitamin B 12 Deficiency

Topics: Anemia; Child; Depression; Depressive Disorder; Feeding and Eating Disorders; Geriatrics; Humans; Hydroxocobalamin; Liver Cirrhosis; Pyridoxine; Thiamine