Results 11 to 20 of about 3,390 (167)

Antenatal Bartter Syndrome as a Rare Cause of Severe Polyhydramnios: A Case Report and Review of the Literature

Clinical Case Reports
Severe polyhydramnios occurs in 1%–2% of pregnancies and may be associated with maternal diabetes, fetal structural anomalies, genetic disorders, or remain idiopathic. Among the rare etiologies is Bartter syndrome, a renal tubular defect causing impaired
Fatemeh Shariati nia, Atefe Hashemi, Shaghayegh Moradi Alamdarloo, Maryam Kasraeian, Dorna Derakhshan, Hamide Barzegar   +5 more
doaj   +2 more sources

Bartter Syndrome With Normal Aldosterone Level and Acute Pancreatitis: An Unusual Presentation. [PDF]

Clin Case Rep
ABSTRACT Bartter syndrome is a rare autosomal recessive renal tubulopathy, which classically presents with hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism. We report an atypical presentation in a 16‐year‐old male who was diagnosed following an initial manifestation of acute pancreatitis.
Ayaz N, Ullah M, Ahmad W, Ullah F, Khan IU, Naim F, Naeem A, Sajjad F, Kamil KA.   +8 more
europepmc   +2 more sources

Reduced Expression of Magnesium Transport Proteins in the Distal Convoluted Tubule of Clcnkb-Deficient Mice May Explain Urinary Magnesium Wasting in Classical Bartter Syndrome. [PDF]

Acta Physiol (Oxf)
ABSTRACT Aim The kidney thick ascending limb (TAL) plays a key role in the transport of sodium, chloride, potassium, calcium, and magnesium. Bartter syndrome is a hypokalemic, salt‐losing tubulopathy caused by impaired TAL function. Pathogenic variants in SLC12A1 or KCNJ1 cause antenatal Bartter syndrome, and variants in CLCNKB result in classical ...
Kortenoeven MLA, Bogdanovic M, Appel I, Skjødt K, Fuchtbauer EM, Madsen K, Lund L, Chambrey R, Eladari D, Alexander RT, Hübner CA, Hennings JC, Dimke H.   +12 more
europepmc   +2 more sources

Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Hasani S, Rezapanah A, Zandbaf T, Ghamari MJ, Mesbah N.   +4 more
europepmc   +2 more sources

A Case of Adult onset Bartter Syndrome with Nephrocalcinosis [PDF]

Kosin Medical Journal, 2014
Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism, normal blood pressure, and other clinical symptoms.
Min Gyu Park, Tae Won Lim, Hee Taek Oh, Seung Un Song, Dong Heo, Hark Rim   +5 more
doaj   +1 more source

A Novel Homozygous Mutation of Classic Bartter Syndrome Presenting with Renal Cysts in 6-year-Old Identical Twin Boys : A Case Report [PDF]

Childhood Kidney Diseases, 2021
Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene.
Min Hwa Son, Hyung Eun Yim, Kee Hwan Yoo
doaj   +1 more source

Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate

Bagcilar Medical Bulletin, 2023
Bartter syndrome is an uncommon autosomal recessive, salt-losing renal tubular disease. Its defining features are numerous electrolyte abnormalities, including low potassium and chloride levels, metabolic alkalosis, and low or normal blood pressure.
Çağrı Cumhur Gök, Özge Kaynar, Leyli Şentürk, Emrah Can, Şahin Hamilçıkan   +4 more
doaj   +1 more source

Bartter syndrome: an overview [PDF]

QJM, 2000
The term Bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis. The patch-clamp technique has made possible the analysis of single ion channels, improving our understanding of the molecular physiopathology of all the 'Bartter-like' syndromes.
I, Amirlak, K P, Dawson
openaire   +2 more sources

Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C [PDF]

Korean Journal of Pediatrics, 2015
The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney.
Keun Hee Choi, Choong Ho Shin, Sei Won Yang, Hae Il Cheong   +3 more
doaj   +1 more source

Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen

Frontiers in Pediatrics, 2018
Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children.Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the ...
Xuejun Yang, Gaofu Zhang, Mo Wang, Haiping Yang, Qiu Li   +4 more
doaj   +1 more source