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Company ADP / / Currency ADP / / Event Product Issues / / Facility ATP ATP V2R cAMP Stimulatory Inhibitory EP3 PGE2 Vte / / IndustryTerm defective protein product / transport systems / amino acid transport systems / membrane transport systems / glucose transport systems / cotransport systems / / MedicalCondition polyuria / disorder Inherited Fanconi’s syndrome / hypochloremic metabolic alkalosis / hypercalciuria X-linked hypophosphatemic rickets / X-linked hypophosphatemia / Nephrogenic diabetes insipidus / dependent rickets / Gordon’s syndrome / Sodium-phosphate cotransporter Inherited Fanconi’s syndrome / idiopathic disorder / acidosis / basic amino acids Cystinuria / seizures / oncogenic hypophosphatemic osteomalacia / glucose-galactose malabsorption syndrome / Mendelian diseases / III cystinuria / hereditary hypophosphatemic rickets / Fanconi’s syndrome / dysfunction / both disorders / resistant metabolic bone disease / episodic hyperventilation / recessive hypophosphatemic rickets / II deficiency / cognitive development Polyuria / systemic disease / rarer disorder / Methioninuria Iminoglycinuria Glycinuria Hereditary / Clinical disorders / Renal Tubular Disorders ROSENBERG CLASSIFICATION OF CYSTINURIAS Category Phenotype Intestinal transport defect Heterozygote Homozygote No abnormality Cystinuria / Inherited disorders / single disorder / autosomal recessive hypophosphatemic rickets / tubular acidosis / disorder / closely related disorders / autosomal dominant hypophosphatemic rickets / tyrosinemia type I / rickets / hypocalciuric-hypomagnesemic Gitelman’s syndrome / autosomal recessive disorder / K+ secretion Metabolic alkalosis Hypokalemia / persistent hypophosphatemia / acquired disorder / Hartnup disease / nephrolithiasis / clinically benign disorders / E syndrome / Ia Type Ib Low-renin hypertension / SYNDROME Disorder OMIM / cystinuria Lysinuria Hartnup disease / mental retardation / generalized proximal tubular dysfunction / cystinuria / lysinuric protein intolerance / X-linked hypophosphatemic rickets / tumors / disease / cystinuria / recessive hypophosphatemic rickets Hereditary / clinically benign disorder / blue diaper syndrome / hypophosphatemia / excessive phosphaturia / excess Pseudohypoaldosteronism / contraction / Bartter’s syndrome / hereditary forms / hypophosphatemic rickets / diabetes mellitus / hyperchloremic metabolic acidosis / hypophosphatemic rickets Hereditary / hypophosphatemic bone disease / phosphaturia / Hereditary fructose intolerance Galactosemia Glycogen storage disease / severe autosomal recessive intestinal disorder / osteomalacia / osteopetrosis / infection / classic Bartter’s syndrome / antenatal and classic Bartter syndrome / inborn errors of metabolism / renal failure / renal tubular acidosis / metabolic bone disease / variant Gitelman’s syndrome Pseudohypoparathyroidism / rare disorder XLRH / single gene defects / renal tubular disorders / hypokalemia / inherited renal tubular disorders / disorders / dehydration / / Organization AR AD / / Person Lisa M. Guay-Woodford / / Product sodium chloride / Vitamin D / acetazolamide / indomethacin / bumetanide / Glycine / captopril / adenosine / PEX activity / protein product / net reabsorption / protein Cystinuria AR Lysinuric protein intolerance AR Hartnup disease Blue / NKCC2 Gene defect Pathophysiology Defective ROMK Defective CIC-Kb Defective NaCl transport / / ProvinceOrState Arkansas / / Technology Positional cloning / transplantation / condensation / / URL http / SocialTag 
Renal Tubular Disorders Lisa M. Guay-Woodford I nherited renal tubular disorders involve a variety of defects in renal