Genetic Disorders Of Renal Electrolyte Transport - Edubirdie

University:
Western Sydney University
Course:
MEDI 2003 | Clinical Sciences 2
Academic year:

2024
Views:

366

Pages:

2
Author:

Mariam A.

Genetic disorders of renal electrolyte transport Proximal tubule   Dent’s disease – mutations affect the renal CIC-5 chloride channel, causes excess Ca 2+ in urine X-linked hypophosphatemic rickets – reabsorption of phosphate and hydroxylation of vitamin D are abnormal Thick ascending loop of Henle   Bartter’s syndrome – mutations in genes encoding the membrane transport proteins o Type 1 – Na-K-2Cl transporter o Type 2 – ATP-sensitive potassium channel o Type 3 – kidney-specific chloride channel B This syndrome is characterised by hypokalaemia, increased blood pH and low-normal BP Distal convoluted tubule  Gitelman’s syndrome – mutation in gene encoding the Na-Cl transporter and causes the kidneys to pass sodium and chloride into the urine, rather than reabsorbing it into the bloodstream Collecting ducts   Familial hypocalciuric hypercalcemia – mutation in gene encoding the calcium-sensing receptor, the perceived lack of calcium levels by parathyroid leads to constitutively high levels of PTH and therefore hypercalcemia. Liddle's syndrome – o Activating mutations in the epithelial sodium channel, stimulating the reabsorption of NaCl in the collecting duct. o Deactivating mutations in the epithelial sodium channel give rise to pseudohypoaldosteronism type 1

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