Full Review Inherited disorders of renal hypomagnesaemia

نویسندگان

  • Martin Konrad
  • Karl Peter Schlingmann
چکیده

The kidney plays a key role in the maintenance of normal magnesium balance. The distal tubule of the kidney, namely the thick ascending limb of the loop of Henle and the distal convoluted tubule, is crucial for the regulation of serum magnesium levels and body magnesium content. The identification of molecular defects related to rare inherited magnesium losing disorders has contributed greatly to a better understanding of the process of renal magnesium handling. Since the number of genetic defects related to magnesium metabolism is still increasing, it might be expected that our knowledge on magnesium physiology will further improve. This knowledge will hopefully lead to therapeutic strategies that enable specific therapies for patients suffering from the symptoms and possible sequelae of chronic magnesium depletion.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A new tubular disorder with hypokalaemic metabolic alkalosis, severe hypermagnesuric hypomagnesaemia, hypercalciuria and cardiomyopathy.

Renal tubular magnesium loss in association with a defect in tubular chloride reabsorption has been reported in Bartter’s and Gitelman’s syndromes. Clinically, both syndromes are characterized by hypokalaemic metabolic alkalosis, renal salt wasting, hyperreninaemic hyperaldosteronism and altered renal prostaglandin metabolism [1]. In Bartter’s syndrome, hypomagnesaemia occurs in 20% of patients...

متن کامل

Hypomagnesaemia due to use of proton pump inhibitors--a review.

Magnesium homeostasis is essential for many intracellular processes and depends on the balance of intestinal absorption and renal excretion. Hypomagnesaemia may arise from various disorders. We review the literature on hypomagnesaemia due to the use of proton pump inhibitors, as illustrated by a case of a 76-year-old woman with muscle cramps and lethargy caused by hypomagnesaemia and hypocalcae...

متن کامل

Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome

Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted tubule. Musculoskeletal effects of Gitelman syndrome are common, including muscle weakness, tetany and cramps. Chronic hypomagnesaemia can lea...

متن کامل

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia

29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound imaging demonstrated unilateral renal cysts and computed tomography of kidneys, ureters and bladd...

متن کامل

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.

BACKGROUND Recent identification and characterization of novel renal Mg(2+) transporters and ion channels have greatly increased our understanding of the normal physiology of renal magnesium handling. METHODS The present study deals with the clinical and molecular characterization of eight Turkish children (median age 10.6 years, range 3-16.2 years, five boys and three girls) with primary hyp...

متن کامل

ذخیره 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 نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2014