Results 11 to 20 of about 1,812 (217)
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
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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
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Hereditary tubulopathies including the associated bone disease [PDF]
Regulatory Mechanisms in Biosystems, 2018 Tubulopathy is a heterogeneous group of diseases combined by the nephron functions disorders of one or more enzyme proteins in the tubular epithelium that cease to function as a reabsorption of one or several substances filtered from the blood through ...
M. O. Ryznychuk +3 more
doaj +3 more sources
Tubulopathy: the clinical and genetic approach in diagnosis [PDF]
Childhood Kidney Diseases, 2023 Remarkable advances in genetic diagnosis expanded our knowledge about inherited tubulopathies and other genetic kidney diseases. This review suggests a simple categorization of inherited tubular disease, clarifies the concept of autosomal dominant ...
Jinwoon Joung, Heeyeon Cho
doaj +1 more source
Case report of glomerular histiocytosis associated with non-crystalline IgG-kappa paraproteinemia [PDF]
BMC NephrologyBackground Monoclonal gammopathy of renal significance (MGRS) represents a range of disease processes arising from monoclonal proteins depositing in the kidney.
Aditya Kishore +3 more
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Correction: Autoimmune Tubulopathies. [PDF]
J Am Soc NephrolHouillier P, Prot-Bertoye C.
europepmc +3 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 +3 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
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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
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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
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