Results 11 to 20 of about 5,396 (203)
Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation. [PDF]
Clin Case RepABSTRACT Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare tubulopathy resulting from mutations in the CLDN16 and CLDN19 genes. The affected individuals commonly present with polyuria, polydipsia, excessive urinary magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, nephrolithiasis, recurrent urinary tract ...
Bhuiyan AAN +4 more
europepmc +2 more sources
Persistent dyselectrolytemia in a neonate induced by liposomal amphotericin B. A case report
Frontiers in Pediatrics, 2023 BackgroundNephrotoxicity is the most frequent serious adverse effect associated with amphotericin B deoxycholate treatment, for this reason, in recent years it has been relegated from routine clinical practice and replaced by the new liposomal ...
Adrian Puertas Sanjuan +4 more
doaj +1 more source
Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants. [PDF]
Pediatr NephrolVaqueiro Graña M +5 more
europepmc +3 more sources
Reumatismo, 2020 Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular,
E. Conticini +6 more
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Differentiated mouse kidney tubuloids as a novel in vitro model to study collecting duct physiology
Frontiers in Cell and Developmental Biology, 2023 Kidney tubuloids are cell models that are derived from human or mouse renal epithelial cells and show high similarities with their in vivo counterparts. Tubuloids grow polarized in 3D, allow for long-term expansion, and represent multiple segments of the
C. J. A. Olde Hanhof +15 more
doaj +1 more source
Journal of Medical Case Reports, 2021 Background We report a case of light chain proximal tubulopathy associated with lupus nephritis in a patient known to have systemic lupus erythematosus. The kidney can be injured in several ways in any of these disorders. Light chain proximal tubulopathy
Wael Mostafa Hamza +1 more
doaj +1 more source
Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7-Year-Old Girl: A Case Report. [PDF]
Clin Case RepABSTRACT Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive renal tubular disorder, caused by mutations in the Claudin‐16 or Claudin‐19 genes. It is characterized by renal wasting of calcium and magnesium, bilateral nephrocalcinosis, and progression to kidney failure eventually.
Tonny RT, Mumu FA, Sharmim S, Huque SS.
europepmc +2 more sources
Light chain proximal tubulopathy [PDF]
Kidney International, 2009 CASE PRESENTATIONA 55-year-old Caucasian woman presented to her primary care physician with complaints of progressive fatigue for several months, dyspnea with minimal exertion, loss of appetite, 15-pound weight loss, and recurrent low-grade fevers. Past medical history was significant only for migraine headaches.
Herlitz, Leal C. +4 more
openaire +2 more sources
Kidney Medicine, 2019 Light chain proximal tubulopathy is a rare M-proteinemia–related nephropathy. The inclusions, composed of light chains in light chain proximal tubulopathy, are generally crystalline, and most exhibit a rhombic shape.
Ayami Ino +8 more
doaj +1 more source
Mitochondrial dysfunction in diabetic tubulopathy
Metabolism, 2022 Diabetic kidney disease (DKD) is a devastating microvascular complication associated with diabetes mellitus. Recently, the major focus of glomerular lesions of DKD has partly shifted to diabetic tubulopathy because of renal insufficiency and prognosis of patients is closely related to tubular atrophy and interstitial fibrosis.
Lan, Yao +5 more
openaire +2 more sources