Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.
نویسندگان
چکیده
Watkins PJ. Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. Diabetes Care 2001; 24: 495–499 2. Inomata S, Itoh M, Imai H, Sato T. Serum levels of erythropoietin as a novel marker reflecting the severity of diabetic nephropathy. Nephron 1997; 75: 426–430 3. Bachmann S, Le Hir M, Eckardt KU. Co-localization of erythropoietin mRNA and ecto-5-nucleotidase immunoreactivity in peritubular cells of rat renal cortex indicates that fibroblasts produce erythropoietin. J Histochem Cytochem 1993; 41: 335–341 4. Babazono T, Hanai K, Suzuki K et al. Lower haemoglobin level and subsequent decline in kidney function in type 2 diabetic adults without clinical albuminuria. Diabetologia 2006; 49: 1387–1393 5. Vaziri ND, Kaupke CJ, Barton CH, Gonzales E. Plasma concentration and urinary excretion of erythropoietin in adult nephrotic syndrome. Am J Med 1992; 92: 35–40 6. Feinstein S, Becker-Cohen R, Algur N et al. Erythropoietin deficiency causes anemia in nephrotic children with normal kidney function. Am J Kidney Dis 2001; 37: 736–742
منابع مشابه
Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.
Inherited tubular disorders associated with metabolic alkalosis are caused by several gene mutations encoding different tubular transporters responsible for NaCl renal handling. Body volume and renin-angiotensin-aldosterone system status are determined by NaCl reabsorption in the distal nephron. Two common hallmarks in affected individuals: hypokalemia and normal / high blood pressure, support ...
متن کاملDisease-causing dysfunctions of barttin in Bartter syndrome type IV.
Bartter syndrome type IV is an inherited human condition characterized by severe renal salt wasting and sensorineural deafness. The causal gene, BSND, encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Barttin modulates the stability, cell surface localization, and function of ClC-K channels; distinct mutations cause phenotypes of varying severity. F...
متن کاملA new mouse model for Bartter's syndrome.
BARTTER’S SYNDROME (BS) COMPRISES a heterogeneous group of hereditary diseases, characterized by salt wasting, hypokalemia, and alkalosis, due to mutations in ion transport genes: the Na -K -2Cl cotransporter (NKCC2) and ROMK K channel in the apical membrane and the ClC-KB Cl channel in the basolateral membrane of thick ascending limb cells. A variant associated with sensorineural deafness (typ...
متن کاملMolecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
BSND encodes barttin, an accessory subunit of renal and inner ear chloride channels. To date, all mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness. We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3. The functional consequence...
متن کاملDo protection devices have a role in renal angioplasty and stent placement?
characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lifton RP. Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2Cl cotransporter NKCC2. variant of Bartter's syndrome, inherited h...
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:
- Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
دوره 22 1 شماره
صفحات -
تاریخ انتشار 2007