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 +3 more sources
Hereditary tubulopathies accompanying polyuia
Regulatory Mechanisms in Biosystems, 2021 Tubulopathies are a group of heterogeneous diseases that are manifested in the malfunction of the renal tubules. This review addresses tubulopathies associated with polyuria syndrome, namely renal glucosuria syndrome, nephrogenic diabetes insipidus and ...
M. O. Ryznychuk +3 more
doaj +4 more sources
Beyond Expensive Innovations: Affordable and Effective Strategies for Managing Tubulopathies in Adults [PDF]
CKJ: Clinical Kidney JournalMarie-Lucile Figueres
exaly +2 more sources
Although myeloid-cell RGS2 knockout does not affect Ang II-induced hypertension/organ damage in mice, high RGS2 in Gitelman/Bartter syndromes-human models of endogenous Ang II signaling antagonism-is associated with hypotensive/antiremodeling effects. [PDF]
Physiol RepPhysiological Reports, Volume 14, Issue 18, September 2026.
Calò LA, Cacciapuoti M, Davis PA.
europepmc +2 more sources
Autoimmune Tubulopathies. [PDF]
J Am Soc NephrolThe renal tubule and collecting duct express a large number of proteins, all having putative immunoreactive motives. Therefore, all can be the target of pathogenic autoantibodies. However, autoimmune tubulopathies seem to be rare, and we hypothesize that they are underdiagnosed.
Houillier P, Prot-Bertoye C.
europepmc +4 more sources
What patients want to know about genetic testing for kidney disease
Frontiers in Medicine, 2023 Previously, genetic kidney disease was often recognised when family members shared clinical features. Now, many genetic kidney diseases are diagnosed when testing demonstrates a pathogenic variant in a gene associated with the disease.
Judy Savige, B. André Weinstock
doaj +1 more source
Correction: Autoimmune Tubulopathies. [PDF]
J Am Soc NephrolHouillier P, Prot-Bertoye C.
europepmc +3 more sources
Bartter Syndrome: A Systematic Review of Case Reports and Case Series
Medicina, 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.
Rakhtan K. Qasba +16 more
doaj +1 more source
Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy [PDF]
Pediatrics International, 2020 AbstractBartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively ...
Kandai Nozu +8 more
openaire +2 more sources
Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review
Frontiers in Pediatrics, 2023 Salt-losing tubulopathies are well-recognised diseases predisposing to metabolic disturbances in affected patients. One of the most severe complications can be life-threatening arrhythmias causing sudden cardiac arrest.
Jakub Zieg +5 more
doaj +1 more source