title: Clinical phenotypes in kidney transport disorders.
abstract: Approximately 20 inherited disorders of kidney transport occurring in man have so far been defined. Most of these diseases have characteristic clinical profiles. They can be divided into four groups: 1) the amino acid transport mutations which include the cystinurias, hyperdibasicaminoaciduria, Joseph syndrome, Hartnup disease, and the methionine malabsorption syndrome: 2) the sugar transport mutations characterized by glucose (renal glucosuria), and glucose-galactose malabsorption; 3) the electrolyte and water transport disorders, among which are familial hypophosphatemic rickets, vitamin D-dependent rickets, pseudohypoparathyroidism, proximal and distal renal tubular acidosis, and nephrogenic diabetes insipidus; and 4) the "mixed" kidney transport mutations such as the "Busby", Fanconi, Lowe, Luder-Sheldon syndromes, and glucoglycinuria.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000141:Acidosis, Renal Tubular / Q000235:genetics; D002556:Cerebrospinal Fluid Proteins; D012080:Chronic Kidney Disease-Mineral and Bone Disorder / Q000235:genetics; D003555:Cystinuria / Q000235:genetics; D003919:Diabetes Insipidus / Q000235:genetics; D005690:Galactose / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D006030:Glycosuria, Renal / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006250:Hartnup Disease / Q000235:genetics; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics; D007684:Kidney Tubules / Q000002:abnormalities; D008286:Malabsorption Syndromes / Q000378:metabolism; D008715:Methionine / Q000378:metabolism; D010641:Phenotype; D011547:Pseudohypoparathyroidism / Q000235:genetics; D011660:Pulmonary Heart Disease / Q000235:genetics; D000608:Renal Aminoacidurias / Q000235:genetics; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*; D012640:Seizures / Q000235:genetics; D013577:Syndrome
chemical_list: D002556:Cerebrospinal Fluid Proteins; D008715:Methionine; D005947:Glucose; D005690:Galactose