Results 11 to 20 of about 490 (115)

Persistent hypokalemia due to a rare mutation in gitelman's syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2020
Chronic hypokalemia is the main finding in patients with Gitelman’s syndrome (GS). GS, a variant of Bartter’s syndrome, is an autosomal recessive renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria.
Dimitrios Mamalis, Theodora Stratigou, Natalia G Vallianou, Georgios G Ioannidis, Theofanis Apostolou   +4 more
doaj   +1 more source

A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane. [PDF]

PLoS ONE, 2008
BACKGROUND: ClC-Kb and ClC-Ka are homologous chloride channels that facilitate chloride homeostasis in the kidney and inner ear. Disruption of ClC-Kb leads to Bartter's Syndrome, a kidney disease.
Gilbert Q Martinez, Merritt Maduke
doaj   +1 more source

Anaesthesia for emergency caesarean section in a patient with Gitelman syndrome

Indian Journal of Anaesthesia, 2020
Gitelman syndrome is a rare autosomal recessive salt-losing disorder of renal tubules, which results in hypokalemic metabolic alkalosis. Associated hypomagnesaemia and hypocalcaemia are also seen.
Sarath Venugopalan, Nitu Puthenveettil, Sunil Rajan, Jerry Paul   +3 more
doaj   +1 more source

Atypical presentation of cystic fibrosis: Obese adolescent with hypertension and pseudo-Bartter’s syndrome [PDF]

Vojnosanitetski Pregled, 2012
Introduction. Infants with cystic fibrosis may fail to thrive despite recommended caloric intake because of electrolyte disurbances caused by salt depletion resulting in hypochloremic metabolic alkalosis or pseudo-Bartter's syndrome.
Sovtić Aleksandar, Minić Predrag, Bogdanović Radovan, Stajić Nataša, Rodić Milan, Marković-Sovtić Gordana   +5 more
doaj   +1 more source

Bartter syndrome-like phenotype in a patient with diabetes: a case report

Journal of Medical Case Reports, 2018
Background Bartter’s syndrome is a rare genetic tubulopathy affecting the loop of Henle leading to salt wasting. It is commonly seen in utero or in early neonatal period.
Chamara Dalugama, Manoji Pathirage, S. A. M. Kularatne   +2 more
doaj   +1 more source

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, Leyla S. Namazova-Baranova, Tatyana V. Sergeeva, Olga V. Chumakova, Svetlana S. Paunova, Nurali Z. Zokirov, Olga V. Komarova, Tea V. Margieva, Vladimir K. Tatochenko, Maya D. Bakradze, Elena N. Tsygina, Olga I. Zrobok, Tatiana V. Vashurina, Irina N. Lupan, Mikhail Yu. Kagan, Alexey N. Tsygin   +15 more
doaj   +1 more source

In Vivo Investigation of (2-Hydroxypropyl)-β-cyclodextrin-Based Formulation of Spironolactone in Aqueous Solution for Paediatric Use

Pharmaceutics, 2022
Spironolactone (SPL), a potent anti-aldosterone steroidal drug used to treat several diseases in paediatric patients (e.g., hypertension, primary aldosteronism, Bartter’s syndrome, and congestive heart failure), is not available in child-friendly dosage ...
Antonio Lopalco, Annachiara Manni, Alexander Keeley, Shozeb Haider, Wenliang Li, Angela Lopedota, Cosimo Damiano Altomare, Nunzio Denora, Catherine Tuleu   +8 more
doaj   +1 more source

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, Stojanović Vesna   +1 more
doaj   +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, Eliecer Coto, Fernando Santos, Mar Espino, Jose Mª Cea Crespo, Giannis Chantzopoulos, Filadelfia Komianou, Juan Gómez, Belén Alonso, Sara Iglesias, Cyrielle Treard, Rosa Vargas-Poussou   +11 more
doaj   +3 more sources

Normal sweat chloride test does not rule out cystic fibrosis

The Turkish Journal of Pediatrics, 2017
A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis.
Abdurrahman Erdem Başaran, Nimet Karataş-Torun, İbrahim Cemal Maslak, Ayşen Bingöl, Özgül M Alper   +4 more
doaj   +1 more source