Vad är gitelmans syndrom

vad är gitelmans syndrom
Bartters syndrom och Gitelmans syndrom är två ärftliga sjukdomar som innebär att njurarnas förmåga att hantera kroppens saltbalans påverkas. Syndromen är närbesläktade. 1 beckwith-wiedemanns syndrom 2 Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles. 3 liddles syndrom 4 Summary. Gitelman syndrome, also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder in which there is a specific defect in kidney function. This defect impairs the kidney’s ability to reabsorb salt and causes changes in various electrolyte concentrations as well as contraction of extracellular fluid volume. 5 Gitelman syndrome, an autosomal recessive renal tubular disorder that affects the thiazide-sensitive sodium-chloride cotransporter, is a rare condition that occurs in 1 out of 40, individuals globally. Unlike other renal disorders, symptoms of Gitelman syndrome often begin in adolescence or adulthood. 6 Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy characterized by renal potassium wasting, hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia, and hyperreninemic hyperaldosteronism. Gitelman syndrome is also referred to as familial hypokalemia-hypomagnesemia. 7 addisons sjukdom 8 Bartters syndrom och Gitelmans syndrom är två ärftliga sjukdomar som innebär att njurarnas förmåga att hantera kroppens saltbalans påverkas. 9 Syndromet kan ge symtom i nyföddhetsperioden eller senare, vanligen under barndomen. 10