Results 81 to 90 of about 1,812 (217)
Distal Tubulopathy. Liddle Syndrome
Pediatric pharmacology, 2019 The clinical recommendations on management of children with Liddle syndrome which is characterized by severe hypertension along with low activity levels of renin and aldosterone in blood plasma, hypokalemia and metabolic alkalosis, were developed by the experts of the Union of pediatricians of Russia. Aspects of epidemiology, etiology and pathogenesis,
Alexander A. Baranov +15 more
openaire +3 more sources
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome:an international cross-sectional study [PDF]
, 2022 Background:Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome.
Alpay, Harika +59 more
core +1 more source
Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan +3 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Iyassu S. Melkie +5 more
wiley +1 more source
Transient Renal Tubulopathy: A Case Report
Renal Failure, 2008 A five-year-old boy was evaluated for fever, abdominal pain, vomiting, and diarrhea lasting two days. Chest radiograph revealed a left bronchopneumonia. Metabolic work-up demonstrated phosphaturia, glucosuria, calciuria, proteinuria, profound hypophosphatemia, hypouricemia, borderline hypomagnesemia, and normoglycemia.
Shira, Shacham +3 more
openaire +2 more sources
Bartter Syndrome. A New Therapeutic Approach [PDF]
, 2011 A Síndrome de Bartter é uma tubulopatia hereditária perdedora de sal, rara (cerca de 1,2 novos casos por 100 000 nados vivos por ano1), caracterizada por alcalose metabólica, hipocaliémia, hiperreninémia e hiperaldosterolémia de gravidade variável.
Castro, I, Mendonça, M, Pinheiro, A
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Long‐Term Follow‐Up of Patients With Transaldolase Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Transaldolase (TALDO) deficiency has a well‐characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter experience in managing these patients.
M. Scaglione +18 more
wiley +1 more source
The lipidome of the kidney tubules of ob/ob mice is affected at the infralesional level
Cell Death DiscoveryWhether changes in tubular lipidomic composition precede the onset of observable kidney damage in obesity is unknown. We manually isolated the proximal convoluted tubule (PCT), the cortical thick ascending limb of Henle’s loop (cTAL) and the cortical ...
Lydie Cheval +4 more
doaj +1 more source
Approach to renal glycosuria in children: a case report [PDF]
, 2014 Introduction: The accidental finding of glycosuria should lead to the exclusion of diabetes mellitus. In the absence of hyperglycemia, glycosuria is probably of renal origin.
Amaral, Rosário +4 more
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Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients [PDF]
, 2022 Introduction: Clinically distinguishing patients with the inherited salt-losing tubulopathies (SLTs), Gitelman or Bartter syndrome (GS or BS) from other causes of hypokalemia (LK) patients is difficult, and genotyping is costly.
Ashton, E +10 more
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