Gitelman syndrome
آخر تحديث 18 Aug 2020
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Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
الوصف
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Familial hypokalemia-hypomagnesemia
Gitelman's syndrome
GS
Hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria
Tubular hypomagnesemia-hypokalemia with hypocalcuria
Related patient information and medicines
Patient information leaflet
الذبحة الصدرية الدقيقة
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Patient information leaflet
متلازمة جيلبرت
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Patient information leaflet
ألم المستقيم العابر وألم الشرج
ألم المستقيم العابر is a fleeting pain in the anus. It lasts less than 20 minutes, with no symptoms whatsoever in between episodes. Levator ani syndrome is a الألم 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
متلازمة كلاينفلتر
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 syndrome in the USA in 1942. The condition.
Patient information leaflet
متلازمة المثانة المفرطة النشاط
متلازمة المثانة المفرطة النشاط 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 أ bag made من muscle, squeezes (contracts) suddenly.
Patient information leaflet
متلازمة القولون العصبي
IBS stands for irritable bowel syndrome, and it is a long-term chronic 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.
قراءة إضافية ومراجع
- Gitelman syndrome; 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.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Feb 2011 | نُشر في الأصل
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