Canadian Medical Guide > Diseases > Urologic and Male Genital Diseases > Urologic Diseases > Kidney Diseases > Renal Tubular Transport, Inborn Errors Terms and Definitions




Renal Tubular Transport, Inborn Errors

Medical Definition: Genetically determined disorders of the reabsorptive functions of the kidney with regard to specific nephron segments responsible for specific transport functions, classifiable by proximal nephron function, loop of Henle function, and distal nephron function. The transport defects can be selective or nonselective. (From Cecil Textbook of Medicine, 19th ed, p584; Harrison's Principles of Internal Medicine, 12th ed, p1140)
Guide Notes: GEN or unspecified; prefer specific; coord IM with specific metabolite /metab (IM); do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: RENAL TUB TRANSP INBORN ERR
Renal Tubular Transport, Inborn Errors Categories.
Canadian Medical Guide Definition Acidosis, Renal Tubular - A rare sometimes familial disorder of the renal tubule characterized by the inability to excrete urine of normal acidity. This leads to a hyperchloremic acidosis which is often associated with one or more secondary complications such as hypercalcinuria with nephrolithiasis and nephrocalcinosis, rickets, or osteomalacia and severe potassium depletion.
Canadian Medical Guide Definition Aminoaciduria, Renal - Impairment of renal tubular transport of amino acids.
Canadian Medical Guide Definition Cystinosis - Lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells. (From Dorland, 27th ed)
Canadian Medical Guide Definition Glycosuria, Renal - Glycosuria occurring when there is only the normal amount of sugar in the blood, due to inherited inability of the renal tubules to reabsorb glucose completely. (Dorland, 27th ed)
Canadian Medical Guide Definition Hypophosphatemia, Familial - Familial disorder characterized by hypophosphatemia associated with decreased renal tubular reabsorption of inorganic phosphorus. It is sometimes associated with osteomalacia or rickets which do not respond to the usual doses of vitamin D.
Canadian Medical Guide Definition Pseudohypoaldosteronism - A hereditary disorder characterized by salt wasting and growth retardation, presenting in infancy as high levels of urinary sodium despite hyponatremia, hyperkalemia, hyperreninemia, and elevated aldosterone levels. The mode of inheritance is probably autosomal dominant, affecting electrolyte secretion in the kidney tubule.

Renal Tubular Transport, Inborn Errors Medical Definitions and Terms

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