Results 31 to 40 of about 6,243 (172)
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
core +1 more source
Síndrome de bartter: uma nova abordagem terapêutica.
Acta Médica Portuguesa, 2011 The Bartter syndrome is a rare hereditary salt-wasting tubulopathy, characterized by metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia of varying severity.
Marta Mendonça +2 more
doaj +1 more source
Saudi Journal of Anaesthesia, 2012 Bartter′s syndrome is an unusual (estimated incidence is 1.2 per million people) but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes.
Nasser Nooh, Walid Abdullah, Saad Sheta
doaj +1 more source
Bartter syndrome with long-term follow-up: a case report
Journal of International Medical Research, 2020 Bartter syndrome is a rare inherited disease caused by CLCNKB mutation, which results in inactivation of the chloride channel Kb protein. Bartter syndrome is characterized by extreme hypokalemia, hypochloremia, metabolic alkalosis, hyperrenin-induced ...
Xueling Wu +6 more
doaj +1 more source
Chronic hyponatremia in a patient with renal salt wasting and without cerebral disease: relationship between RSW, risk of fractures and cognitive impairment [PDF]
, 2018 Renal salt wasting syndrome (RSW) is defined as a renal loss of sodium leading to hyponatremia and a decrease in extracellular fluid volume (ECV). Differentiation of this disorder from the syndrome of inappropriate antidiuretic hormone secretion (SIADH),
Della Corte V. +3 more
core +1 more source
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 [PDF]
, 2016 EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney.
Abdelhadi, O +4 more
core +1 more source
CLC channel function and dysfunction in health and disease [PDF]
, 2014 CLC channels and transporters are expressed in most tissues and fulfill diverse functions. There are four human CLC channels, ClC-1, ClC-2, ClC-Ka and ClC-Kb, and five CLC transporters, ClC-3 through -7.
Christoph Fahlke +2 more
core +2 more sources
Unusual Complication of Multidrug Resistant Tuberculosis
Case Reports in Nephrology, 2017 Introduction. Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides.
Prerna Sharma, Ravindra Nath Sahay
doaj +1 more source
Diseases associated with calcium-sensing receptor [PDF]
, 2017 The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion.
A. Jannin +6 more
core +1 more source
Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report
Frontiers in Pediatrics, 2021 Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen +4 more
doaj +1 more source