Results 11 to 20 of about 2,061,243 (253)
Bartter syndrome in a female infant: A rare case report from Syria [PDF]
SAGE Open Medical Case ReportsAntenatal Bartter syndrome is a rare condition that affects approximately 1.2 individuals per million. It is caused by renal tubular dysfunction that impairs the reabsorption of sodium and chloride.
Hamdah Hanifa +4 more
doaj +5 more sources
Type-5 Bartter syndrome presenting with metabolic seizure in adulthood. [PDF]
BMJ Case Rep, 2021 Bartter syndrome is a very rare and heterogeneous disease with variable age of onset and symptom severity. Genotypically they have inherited disorders of the thick ascending limb in the renal tubular system, which manifest phenotypically as electrolyte ...
Hussain A +3 more
europepmc +4 more sources
Bartter syndrome-like phenotype in a patient with diabetes: a case report [PDF]
Journal of Medical Case Reports, 2018 BackgroundBartter’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 +2 more
openalex +2 more sources
BMJ Case Reports, 2021 Cystinosis is a multisystem disorder with varied presentations secondary to deposition of cystine crystals in different organ systems. Children with cystinosis typically present with renal tubular acidosis and failure to thrive.
Gargi Das +3 more
openalex +3 more sources
Bartter syndrome with long-term follow-up: a case report
Journal of International Medical Research, 2020 Bartter syndrome is a rare inherited disease caused by CLCNKB mutation, which results in inactivation of the chloride channel Kb protein. Bartter syndrome is characterized by extreme hypokalemia, hypochloremia, metabolic alkalosis, hyperrenin-induced ...
Xueling Wu +6 more
doaj +2 more sources
Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome [PDF]
Case Reports in GeneticsConclusions: Bartter syndrome Type III is a genetic disorder that must be identified clinically without delay, as it typically manifests as acute dehydration due to polyuria and vomiting.
Navid Roodaki +3 more
doaj +2 more sources
Bartter syndrome: causes, diagnosis, and treatment
International Journal of Nephrology and Renovascular Disease, 2018 Tamara da Silva Cunha, Ita Pfeferman Heilberg Nephrology Division, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, Brazil Abstract: Bartter syndrome is an inherited renal tubular disorder caused by a ...
Cunha TDS, Heilberg IP
doaj +2 more sources
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 +4 more
doaj +2 more sources
Late-onset Bartter syndrome type II [PDF]
Clinical Kidney Journal, 2017 Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who ...
Benjamin Gollasch +3 more
openalex +2 more sources
Bartter Syndrome: A Systematic Review of Case Reports and Case Series. [PDF]
Medicina (Kaunas), 2023 Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia.
Qasba RK +16 more
europepmc +2 more sources