Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]
, 2017 Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E +8 more
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EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 [PDF]
, 2016 EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney.
Abdelhadi, O +4 more
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Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]
, 2018 Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I +5 more
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The clinical epidemiology of young adults starting renal replacement therapy in the UK:presentation, management and survival using 15 years of UK Renal Registry data [PDF]
, 2017 Background: Clinical epidemiology data for young adults on renal replacement therapy (RRT) is lacking. Whilst mostly transplanted, they have an increased risk of graft loss during young adulthood. Methods: We combined the UK Renal Registry paediatric and
Ben-Shlomo, Yoav +4 more
core +2 more sources
A clinical approach to tubulopathies in children and young adults [PDF]
, 2023 Kidney tubules are responsible for the preservation of fluid, electrolyte and acid-base homeostasis via passive and active mechanisms. These physiological processes can be disrupted by inherited or acquired aetiologies.
Kermond, Rachael +2 more
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Journal of Renal and Hepatic Disorders, 2018 Tenofovir disoproxil fumarate (TDF) is a common antiretroviral utilised in the treatment of human immunodeficiency virus (HIV) and hepatitis B infections.
Nicole Marie Lioufas +3 more
doaj +1 more source
Klotho, FGF23, and FGF receptors in chronic kidney disease: a yin–yang situation? [PDF]
, 2010 Secondary hyperparathyroidism in chronic kidney disease (CKD) develops in response to disturbances in calcium and phosphate metabolism associated with CKD, including FGF23 and klotho.
Tilman B. Drüeke +16 more
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Light chain proximal tubulopathy with lambda restriction presenting as acute kidney injury [PDF]
Journal of Nephropathology, 2021 Monoclonal gammopathies can produce a variety of glomerular, tubular, vascular and interstitial lesions. The spectrums of renal lesions produced by these monoclonal gammopathies include AL/AH amyloidosis, light chain cast nephropathy or myeloma kidney ...
Asha Thomas +4 more
doaj +1 more source
Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance [PDF]
, 2017 Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are ...
Eisel, Rüdiger +4 more
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Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
Scientific Reports, 2023 Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical ...
Alejandro García-Castaño +8 more
doaj +1 more source