A rare case of Gitelman's syndrome with hypophosphatemia.
نویسندگان
چکیده
Gitelman's syndrome is a hereditary disorder occurring due to loss of functional mutations of the gene encoding the distal convoluted tubule sodium chloride cotransporter (NCCT) and is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. This case reports an adolescent girl presenting with episodes of carpopedal spasms and difficulty in walking with laboratory tests suggestive of Gitelman's syndrome along with hypophosphatemia.
منابع مشابه
Hypophosphataemia in a patient with Gitelman's syndrome.
Gitelman's syndrome, also known as 'hypocalciuric variant' of Bartter's syndrome, is a primary renal tubular disorder characterized by chronic hypokalaemia, hypomagnesaemia, metabolic alkalosis, hypocalciuria with normocalcaemia, hyperreninaemic hyperaldosteronism, and normal renal function [1—3]. The clinical features allowing its differentiation from 'classical' Bartter's syndrome include low...
متن کاملGitelman's syndrome with mental retardation.
A 56-year-old mentally retarded Japanese woman (intelligence quotient: 49) was admitted to our hospital with the chief complaints of headache, dizziness, vomiting, and lower limb paralysis. Laboratory tests showed severe hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. These findings suggested a diagnosis of Gitelman's syndrome (GS). We examined the thiazide-sensitive Na-Cl ...
متن کاملAttenuated renal excretion in response to thiazide diuretics in Gitelman's syndrome: a case report.
Gitelman's syndrome is a variant of Bartter's syndrome characterized by hypocalciuria and hypomagnesemia. The administration of thiazide diuretics may induce a subnormal increase of urinary Na+ and Cl- excretion in patients with Gitelman's syndrome, consistent with the hypothesis that less Na+ and Cl- than normal is reabsorbed by the thiazide-inhibitable transporter in Gitelman's syndrome. Spec...
متن کاملA case of Gitelman's syndrome with chondrocalcinosis.
A 45-year-old Japanese woman, treated for Bartter's syndrome for 14 years, presented with complaints of numbness in her extremities and polyarthralgia. She was diagnosed to have Gitelman's syndrome with chondrocalcinosis, which were effectively treated with spironolactone and magnesium supplementation. Gitelman's syndrome is a primary renal tubular disorder characterized by hypomagnesemia and h...
متن کاملA case of nephrotic syndrome with Gitelman's syndrome.
Nephrotic syndrome, though common in children, association of it with Gitelman's syndrome (GS) is a rare occurrence. Very few cases have been reported in the medical literature so far. Here we report a case of nephrotic syndrome with frequent relapses and remissions on intermittent steroid and diuretic therapy. Patient was restarted on steroids and frusemide. Puffiness of face, bipedal edema an...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
دوره 19 4 شماره
صفحات -
تاریخ انتشار 2009