oxalates and Immunologic-Deficiency-Syndromes

Topics: alpha 1-Antitrypsin Deficiency; Amyloidosis; Bone Marrow Transplantation; Fabry Disease; Gaucher Disease; Genetic Diseases, Inborn; Gout; Granulomatous Disease, Chronic; Hemoglobinopathies; Hemophilia A; Hepatolenticular Degeneration; Humans; Immunologic Deficiency Syndromes; Kidney Transplantation; Leukodystrophy, Metachromatic; Liver Transplantation; Lymphocytes; Metabolism, Inborn Errors; Mucopolysaccharidoses; Nephritis, Hereditary; Niemann-Pick Diseases; Osteopetrosis; Oxalates; Oxalic Acid; Transplantation; Tyrosine; Uremia

Topics: Adenosine Deaminase; Amino Acid Metabolism, Inborn Errors; B-Lymphocytes; Child; Consanguinity; Female; Humans; Immunoglobulins; Immunologic Deficiency Syndromes; Kidney Calculi; Lymphocytes; Male; Nucleoside Deaminases; Oxalates; Pedigree; Purine-Pyrimidine Metabolism, Inborn Errors; Rosette Formation; T-Lymphocytes

This group of disorders has a number of causes. Early in the course of the disease, tubular malfunction is out of proportion to glomerular disease. The early presentation may be inability to concentrate urine, salt wasting, distal or proximal renal tubular acidosis and/or Fanconi's syndrome. With early diagnosis and treatment, progression of the renal disorder can be prevented or at least delayed. One can easily discontinue the antibiotic or analgesic, remove the heavy metal, treat the electrolyte abnormality, lower the uric acid or remove the genitourinary tract obstruction.

Topics: Analgesics; Drug Hypersensitivity; Glomerular Filtration Rate; Humans; Hypercalcemia; Hypokalemia; Immunologic Deficiency Syndromes; Kidney Tubules; Lead Poisoning; Nephritis, Interstitial; Oxalates; Pyelonephritis; Substance-Related Disorders; Uric Acid