Results 41 to 50 of about 2,061,243 (253)

Neonatal Bartter syndrome [PDF]

The Indian Journal of Pediatrics, 2002
A case of neonatal Bartter syndrome is reported. The baby born pre-term following a pregnancy complicated by polyhydramnios, presented at 7 months of age with failure to thrive, gastroenteritis and facial dysmorphisms. An unusual feature was the absence of the classical biochemical abnormality of hypochloremic alkalosis early in the course of the ...
Mamta N, Muranjan, Vishakha C, Kantharia, S B, Bavdekar, Ujjwala, Kabde, Ramesh C, Parmar   +4 more
openaire   +2 more sources

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

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

Medullary Nephrocalcinosis – Unraveling a Mystery

Indian Journal of Kidney Diseases, 2023
This is a case report of Bartter syndrome type 2 being diagnosed in an adult patient during evaluation for end stage kidney disease. This 29-year old woman first presented during her first pregnancy with proteinuria and on evaluation she was found to ...
S. Ravitej, Mohammed Fahad Khan, Shilpa Shetty, Kishore Babu, H. Sudarshan Ballal   +4 more
doaj   +1 more source

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome:an international cross-sectional study [PDF]

, 2022
Background:Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome.
Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bockenhauer, Detlef, Boyer, Olivia, Burgmaier, Kathrin, Bárány, Peter, Bökenkamp, Arend, Calò, Lorenzo A., Conti, Valerie Said, Decramer, Stéphane, Devuyst, Olivier, Emma, Francesco, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Nijenhuis, Tom, Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, van Dyck, Maria, Vargas-Poussou, Rosa, Verploegen, Maartje F.A., Vidal, Enrico, Walsh, Stephen B., Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia   +59 more
core   +6 more sources

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome. [PDF]

BMC Med Genomics
Yan X, Hu Y, Zhang X, Gao X, Zhao Y, Peng H, Ouyang L, Zhang C.   +7 more
europepmc   +3 more sources

Mutationsanalysen bei hereditären Salzverlusttubulopathien [PDF]

, 2004
Der Begriff Bartter-Syndrom stellt den historisch bedingten Sammelbegriff für einige hereditäre Tubulopathien dar, denen eine chronische hypokaliämische metabolische Alkalose gemein ist.
Ott, Henning, Seyberth, Hannsjörg W. Prof. Dr. med.   +1 more
core   +1 more source

Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2011
Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case Outline. A male newborn born in the
Igrutinović Zoran, Peco-Antić Amira, Radlović Nedeljko, Vuletić Biljana, Marković Slavica, Vujić Ana, Rašković Zorica   +6 more
doaj   +1 more source

Rare Association of Takotsubo Cardiomyopathy with Acquired Bartter-Like Phenotype and Colonic Stricture

European Medical Journal Cardiology, 2022
Takotsubo syndrome is a rare entity, and the occurrence of Bartter syndrome along with Takotsubo syndrome makes it a bizarre incidence. Diagnosis of both is very crucial and important, as the signs and symptoms tend to be different for each patient ...
Ramesh Patel, Rajan Chaudhari, Sandeep Aggarwal   +2 more
doaj   +1 more source

A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report. [PDF]

Indian J Clin Biochem, 2023
Shah S, Jondhale S, Sahoo MR, Jagzape T, Keshri S, Goel AK.   +5 more
europepmc   +3 more sources