| Entry | H00240 Disease |
|---|---|
| Other DBs | ICD-11: 5C64.41 ICD-10: E26.8 MeSH: D053579 OMIM: 263800 |
| Reference | PMID:18667063 |
| Authors | Knoers NV, Levtchenko EN |
| Title | Gitelman syndrome. |
For Gitelman's syndrome, code all syndrome manifestations relevant to the patient followed by.a code from Q87 to reflect that it is a congenital syndrome without a specific code in ICD-10-AM:N25.8 Other disorders resulting from impaired renal tubular function.E87.6 Hypokalaemia.E83.4 Disorders of magnesium metabolism.More items...
Description. Collapse Section. Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence.
Gitelman syndrome is an inherited disease. However, Gitelman syndrome can be acquired in patients with autoimmune diseases, especially Sjögren's syndrome. The presence of circulating auto-antibodies to NCCT was suggested as a mechanism of acquired Gitelman syndrome.
The Bartter syndrome phenotype is the result of impaired sodium/chloride reabsorption in the thick ascending limb (TAL), whereas the Gitelman syndrome phenotype is the result of impaired sodium/chloride reabsorption in the distal convoluted tubule (DCT).
Results. Analysis reveals four ways of experiencing Gitelman disease in daily life: as a disabling illness, as a normalized illness, as a different form of normality and as an episodic disability.
The elevated aldosterone levels give rise to increased electrogenic sodium reabsorption in the cortical collecting duct via the epithelial sodium channel (ENaC), defending salt homeostasis at the expense of increased secretion of potassium and hydrogen ions, thus resulting in hypokalemia and metabolic alkalosis.
Fundamentally, like Bartter's syndrome, Gitelman syndrome is a salt wasting nephropathy. The symptoms and severity of the disorder can vary greatly from one person to another and can range from mild to severe. For unknown reasons, the onset of symptoms is frequently delayed until the second decade of life.
In rare cases, patients with Gitelman syndrome may present with hypokalemic paralysis mimicking Guillain–Barré syndrome. The severity of resultant symptoms may be life‐threatening.
Introduction. Gitelman's syndrome is an autosomal recessive disorder characterized by sodium wasting and low blood pressure. Recently, we have experienced an unusual case of Gitelman's syndrome which manifested as hypertension in middle age.
The elevated aldosterone levels give rise to increased electrogenic sodium reabsorption in the cortical collecting duct via the epithelial sodium channel (ENaC), defending salt homeostasis at the expense of increased secretion of potassium and hydrogen ions, thus resulting in hypokalemia and metabolic alkalosis.
Hypomagnesemia is found in most patients with Gitelman syndrome and is assumed to be secondary to the primary defect in the NCCT, but some data point to magnesium wasting as a primary abnormality. Some studies have indicated that magnesium wasting in Gitelman syndrome may be due to down-regulation of TRPM6 in the DCT.
The lack of luminal positive charge leads to increased level of calcium and magnesium in the urine. The end result is mild renal sodium, chloride, potassium, calcium and magnesium wasting. This form of Bartter syndrome has additional phenotypic presentation of hypocalcemia and hypomagnesemia.