Results 41 to 50 of about 6,399 (205)
Inherited Renal Tubulopathies—Challenges and Controversies [PDF]
Genes, 2020 Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism.
Daniela Iancu, Emma Ashton
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Hyperaldosteronism in children and adolescents
Лечащий Врач, 2021 The review article considers current data on the etiology, pathogenesis, clinical picture, genetic diagnostics of hyperaldosteronism in children and adolescents. Phenotypic signs characteristic of this syndrome are described.
V. V. Smirnov, L. I. Bikbaeva
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Urinary cystatin C as a marker of tubular dysfunction [PDF]
Journal of Medical Biochemistry, 2007 Cystatin C (CysC) is a nonglycosylated 13 KD protein that belongs to the type II cystatin gene family. It is a strong inhibitor of cysteine proteinases freely filtered by the kidney glomerulus and reabsorbed by the tubulus, where it is almost totally ...
Mijušković Zoran +6 more
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Frontiers in Pediatrics, 2019 Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Maryam Najafi +14 more
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Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation
European Journal of Case Reports in Internal Medicine, 2021 Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter.
Maria Clara Novais de Matos +6 more
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Diagnosis and clinical biochemistry of inherited tubulopathies [PDF]
Annals of Clinical Biochemistry, 2001 Epithelial ion channels and transporter proteins have physiologically important roles throughout the length of the nephron. Discovering the molecular identities of tubular epithelial cell proteins and their functional roles has increased understanding of both renal physiology and tubular diseases. Defects in tubular handling of solutes may present with
J A, Sayer, S H, Pearce
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Journal of the American Society of NephrologyThe 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.
Pascal Houillier, Caroline Prot-Bertoye
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PathophysiologyRenal function refers to the combined actions of the glomerulus and tubular system to achieve homeostasis in bodily fluids. While the glomerulus is essential in the first step of urine formation through a coordinated filtration mechanism, the tubular ...
Mario Alamilla-Sanchez +11 more
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Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study [PDF]
, 2013 Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys).
Vesna Stojanović +11 more
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Current Issues in Molecular BiologyGitelman syndrome (GS) is a rare, autosomal recessive salt-losing tubulopathy caused by mutations in the SLC12A3 gene. It involves dysfunction of the sodium-chloride cotransporter positioned on the apical membranes of the distal convoluted tubule cells ...
Izabela Szubert +2 more
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