What is Gitelman’s Syndrome ?

Gitelman’s syndrome is a rare inherited defect in the renal tubule of the kidneys.  This defect causes the kidney to waste magnesium, sodium, potassium and chloride in the urine, instead of reabsorbing it back into the bloodstream.   Urine calcium levels are lower than normal, despite normal serum values.   This syndrome does not cause kidney failure nor does it cause the kidneys to function abnormally.  The kidneys are normal.  The problem is the reabsorption of important electrolytes and minerals.

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Gitelman Syndrome, Information for Healthcare Workers

History

Gitelman’s Syndrome was discovered in 1966 by Dr Hillel Gitelman. It was discovered that some patients with Bartter’s showed a different myriad of symptoms. Gitelman’s syndrome is also a renal salt wasting disorder but the defective tubule is in the thiazide-sensitive Na-Cl cotransporter in the distal convoluted tubule(DCT). Both disorders are associated with hypokalemia, renal potassium wasting, activation of the renin-angiotensin-aldosterone axis, and normal blood pressure. Unlike patients with Bartters, patients with Gitelman’s syndrome have hypomagnesemia, increased urinary magnesium, and decreased calcium excretion.

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Gitelman Syndrome, Orphanet Journal of Rare Diseases

Gitelman syndrome

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands,
Orphanet Journal of Rare Diseases 2008, 3:22doi:10.1186/1750-1172-3-22

Nine VAM Knoers and Elena N Levtchenko,

The electronic version of this article is the complete one and can be found online at: http://www.ojrd.com/content/3/1/22

© 2008 Knoers and Levtchenko; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood.

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Gitelman Disease Associated with Growth Hormone Deficiency

Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?

Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubule. GH deficiency was demonstrated by specific diagnostic tests in both children. Hypertonic saline infusion tests showed a partial vasopressin deficiency in the girl and delayed secretion of this hormone in the boy.

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Low Magnesium levels Lead to Low Blood Calcium Levels in Gitelman’s

Evidence for Disturbed Regulation of Calciotropic Hormone Metabolism in Gitelman Syndrome

Little attention has been paid to interactions between circulating levels of calcium, PTH, and 1,25-dihydroxycholecalciferol [1,25(OH)2 D] and bone mineral density in primary renal magnesium deficiency. Plasma and urinary electrolytes, and circulating levels of calciotropic hormones were studied in 13 untreated patients with primary renal tubular hypokalemic alkalosis with hypocalciuria and magnesium deficiency. The blood ionized calcium concentration was significantly lower in patients than in controls.

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Types of Bartter Syndrome

Bartter syndromes are defined as a family of inherited recessive autosomal tubulopathies. They are characterized by hypochloremia, hypokalemia, metabolic alkalosis associated with potassium renal leakage and normal blood pressure despite increased plasma renin activity. Read the rest »

Growth Hormone and Gitelman’s Syndrome

Recombinant Human Growth Hormone and Gitelman’s Syndrome

Gitelman’s syndrome is a primary renal tubular disorder with hypokalemic metabolic alkalosis, hypocalciuria, and magnesium deficiency. Short stature is one of clinical manifestations in children. The pathogenesis of short stature in Gitelman’s syndrome is not known. To evaluate whether growth hormone (GH) is deficient and whether recombinant human GH (rhGH) improves growth rate, rhGH therapy was tried in a child with Gitelman’s syndrome.

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Gitelman Syndrome

Gitelman’s syndrome is a rare inherited defect in the renal tubule of the kidneys. This defect causes the kidney to waste magnesium, sodium, potassium and chloride in the urine, instead of reabsorbing it back into the bloodstream. Urine calcium levels are lower than normal, despite normal serum values. This syndrome does not cause kidney failure nor does it cause the kidneys to function abnormally. The kidneys are normal. The problem is the reabsorption of important electrolytes and minerals.

Read the rest »

Gitelman Abstracts

Medical journals online will show a summary of medical articles. The summary is called an “abstract”. Sometimes just reading the abstract will tell you enough. Sometimes after reading an abstract you might want to read the full article. Then you can go to a medical library or public library and ask them to obtain the article for you. There are 7 abstracts listed.

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Full Journal Articles

On this page we have full journal articles of the selected topics. These are not as easy to create or find so I don’t have as many of them as I do the abstracts. There are 22 articles listed.

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