Loop tubulopathies: Bartter’s syndrome
Педиатрическая фармакология, 2019 The authors provide a review of current clinical guidelines regarding medical care provided to children with Bartter’s syndrome — impaired renal tubular function (loop of Henle) with the development of hypokalemia, hypochloremia, metabolic alkalosis and ...
Alexander A. Baranov +15 more
doaj +1 more source
Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]
, 2016 Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira +17 more
core +1 more source
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]
, 2019 BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli +49 more
core +3 more sources
Risk factors evaluation for urolithiasis among children [PDF]
, 1978 BackgroundThe prevalence of pediatric urolithiasis varies from 0.01–0.03%. Urolithiasis may be caused by anatomical, metabolic and environmental factors.
Velásquez-Forero, Francisco +5 more
core +2 more sources
Pseudo-Bartter’s syndrome in patients with cystic fibrosis: A case series and review of the literature [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2015 Introduction. Pseudo-Bartter syndrome (PBS) is characterized by hyponatremic, hypochloremic metabolic alkalosis that mimics Bartter syndrome but with no pathology in the renal tubules.
Vilotijević-Dautović Gordana +1 more
doaj +1 more source
Mutation spectrum of Egyptian children with cystic fibrosis [PDF]
, 2016 OBJECTIVE: To know the common CFTR mutations in the Egyptian patients with cystic fibrosis as it was previously thought to be uncommon disease in Egypt.
Dina Ahmed Mehaney +2 more
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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
The calcilytic agent NPS 2143 rectifies hypocalcemia in a mouse model with an activating calcium-sensing-receptor (CaSR) mutation:relevance to autosomal dominant hypocalcemia type 1 (ADH1) [PDF]
, 2015 Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum parathyroid hormone (PTH) concentrations and ...
Allen M. Spiegel +44 more
core +1 more source
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
Nefrología (English Edition), 2017 Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are
Helena Gil-Peña +11 more
doaj +3 more sources
Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. [PDF]
, 1997 BACKGROUND: Gitelman syndrome (GS) is a rare recessively inherited renal tubulopathy associated with renal potassium (K) and magnesium (Mg) loss. It requires lifelong K and Mg supplementation at high doses that are at best unpalatable and at worst ...
A. Ingsathit +40 more
core +36 more sources