Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients [PDF]
, 2022 Introduction: Clinically distinguishing patients with the inherited salt-losing tubulopathies (SLTs), Gitelman or Bartter syndrome (GS or BS) from other causes of hypokalemia (LK) patients is difficult, and genotyping is costly.
Ashton, E +10 more
core
Modified oral rehydration therapy in a case with cystic fibrosis
The Turkish Journal of Pediatrics, 2007 Infants with cystic fibrosis can develop episodes of hyponatremic, hypochloremic dehydration with metabolic alkalosis, and management is difficult.
S Songül Yalçin +5 more
doaj
Pseudo-Bartter Syndrome in a Previously Healthy Child: Cystic Fibrosis
Turkish Journal of Nephrology, 2019 Cystic fibrosis (CF) is an autosomal recessive disease affecting exocrine glands and frequently presenting with respiratory and gastrointestinal symptoms.
Neşe BIYIKLI +3 more
doaj
Bartter-like syndrome caused by kanamycin during therapy for multidrug-resistant Mycobacterium tuberculosis [PDF]
, 2018 Multidrug-resistant Mycobacterium tuberculosis infection (MDR-TB) is a highly prevalent communicable disease in South Africa and often occurs in those with HIV infection.
Chothia, Mogamat-Yazied +3 more
core +2 more sources
A Case of Pseudo-Bartter's Syndrome Associated with Hypokalemic Myopathy
Folia Endocrinologica Japonica, 1988 A case of pseudo-Bartter's syndrome associated with hypokalemic myopathy was presented. A 37-year-old housewife was admitted to our hospital because of muscle cramps with muscle weakness and tetany. There was a history of facial edema and constipation, which have been managed with "Kanpo medicine (Chinese medicine)" and laxatives for several years. The
Tatuyuki IMAI +10 more
openaire +3 more sources
Pseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report. [PDF]
Clin Pediatr Endocrinol, 2023 Toyoda J +6 more
europepmc +1 more source
Impaired Water Diuresis in a Patient with Pseudo-Bartter Syndrome.
Endocrinologia Japonica, 1992 A 32-year-old man was diagnosed as having pseudo-Bartter syndrome due to surreptitious habitual vomiting and to maldigestion related to decayed teeth. His chief complaints were muscle pain and weakness. In this case, metabolic alkalosis, hypokalemia, hypochloremia, increased plasma renin activity and aldosterone levels were noticed with marked ...
M, Shoji +9 more
openaire +3 more sources
A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report. [PDF]
Indian J Clin Biochem, 2023 Shah S +5 more
europepmc +1 more source
Contribution of the sympathetic nervous system to the pathogenesis of salt-sensitive hypertension [PDF]
, 2016 Dysregulation of the sodium-chloride cotransporter (NCC) is believed to significantly impact blood pressure. Recent studies have implicated overactivity of the sympathetic nervous system as a mechanism driving renal NCC dysregulation to evoke the ...
Pazzol, Michael Lee
core +1 more source