Clinical phenotypes in kidney transport disorders.
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.
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
D002556:Cerebrospinal Fluid Proteins; D008715:Methionine; D005947:Glucose; D005690:Galactose