Sindrome di Gitelman
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
Descrizione
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. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paresthesias), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.
The signs and symptoms of Gitelman syndrome vary widely, even among affected members of the same family. Most people with this condition have relatively mild symptoms, although affected individuals with severe muscle cramping, paralysis, and slow growth have been reported.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
Familial hypokalemia-hypomagnesemia
Sindrome di Gitelman
GS
Hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria
Tubular hypomagnesemia-hypokalemia with hypocalcuria
Related patient information and medicines
Patient information leaflet
Angina microvascolare
C'è no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) is thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
Patient information leaflet
Sindrome di Gilbert
Gilbert's syndrome is due to an inherited defect in processing bilirubin in the liver. Bilirubin is produced from the breakdown of red blood cells. When it cannot be cleared properly in the liver, its levels build up in the blood. What is Gilbert's syndrome. Gilbert's syndrome - also known as constitutional hepatic dysfunction - is a condition.
Patient information leaflet
Proctalgia fugax e dolore anale
Proctalgia fugax is a fleeting pain in the anus. It lasts less than 20 minutes, with no symptoms whatsoever in between episodes. Sindrome del muscolo elevatore dell'ano is a dolore which lasts for longer. Both are only diagnosed when no other cause is found. What is proctalgia fugax. Proctalgia fugax is one of a number of conditions which cause anal or rectal pain.
Patient information leaflet
Sindrome di Klinefelter
Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. It is sometimes just called XXY. Betwee... It is a sex chromosome trisomy. Instead of being 46, XY, men or boys with KS are usually 47, XXY. Dr Harry F. Klinefelter first described this sindrome in the USA in 1942. The condition.
Patient information leaflet
Sindrome della vescica iperattiva
Sindrome della vescica iperattiva is very common. Symptoms of overactive bladder include an urgent feeling that you need to go to the toilet, needing to pass urine frequently and sometimes leaking urine before you can get to the toilet. Overactive bladder (OAB) syndrome means that the bladder, which is a bag made di muscle, squeezes (contracts) suddenly.
Patient information leaflet
Sindrome dell'intestino irritabile
IBS stands for irritable bowel syndrome, and it is a long-term pancreatite condition of the gut (bowel) that causes episodes of tummy (abdominal) cramps, bloating and either constipation or diarrhoea. IBS is a problem with how the bowel works. What is IBS. IBS stands for irritable bowel syndrome and may not cause any harm to your body but sometimes.
Ulteriori letture e riferimenti
- Sindrome di Gitelman; MedlinePlus, National Library of Medicine.
- Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB; Yale Gitelman's and Bartter's Syndrome Collaborative Study Group. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int. 2001 Feb;59(2):710-7. doi: 10.1046/j.1523-1755.2001.059002710.x.
- Enriquez R, Adam V, Sirvent AE, Garcia-Garcia AB, Millan I, Amoros F. Gitelman syndrome due to p.A204T mutation in CLCNKB gene. Int Urol Nephrol. 2010 Dec;42(4):1099-102. doi: 10.1007/s11255-010-9850-4. Epub 2010 Oct 8.
- Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res. 2000 Dec;48(6):754-8. doi: 10.1203/00006450-200012000-00009.
- Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22.
- Knoers NV. Gitelman syndrome. Adv Chronic Kidney Dis. 2006 Apr;13(2):148-54. doi: 10.1053/j.ackd.2006.01.014.
- Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O. Gitelman's syndrome: towards genotype-phenotype correlations? Pediatr Nephrol. 2007 Mar;22(3):326-32. doi: 10.1007/s00467-006-0321-1. Epub 2006 Oct 24.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.