Results 31 to 40 of about 41,808 (221)
, 2009 Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Castro, I, Neves, R
core +1 more source
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
Children, 2021 Fanconi syndrome is one of the primary renal manifestations of mitochondrial cytopathies caused by mitochondrial DNA (mtDNA) mutation. The common 4977-bp mtDNA deletion has been reported to be associated with aging and diseases involving multiple ...
Ting Li +5 more
doaj +1 more source
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]
, 2009 We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne +11 more
core +3 more sources
Acquired Fanconi Syndrome from Tenofovir Treatment in a Patient with Hepatitis B
Case Reports in Hepatology, 2023 Fanconi syndrome is a rare disease of generalized proximal tubule dysfunction which can be acquired secondary to certain medications, including tenofovir, a commonly used hepatitis B treatment.
Shirley X. Jiang +2 more
doaj +1 more source
Fanconi Syndrome: Genetic and Acquired Determinants
Journal of Education, Health and SportFanconi syndrome is a condition characterized by proximal tubular dysfunction of the nephron, leading to urinary loss of glucose, amino acids, and electrolytes such as phosphate, sodium, potassium, calcium, and magnesium. It often co-occurs with tubular
Rafał Rejmak +6 more
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Aminoaciduria Caused by Fanconi Syndrome in a Heifer
Journal of Veterinary Internal Medicine, 2017 A case study of renal tubular dysfunction consistent with idiopathic Fanconi syndrome is reported in an 18‐month‐old Holstein heifer. The clinical, biochemical, and histopathological features are described.
N. Cesbron +4 more
doaj +1 more source
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy
Cell Reports, 2016 Summary: We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH.
Nadine Assmann +13 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Gastrointestinal graft‐versus‐host disease (GI GVHD) following hematopoietic stem cell transplant is typically managed with medical therapy, but surgery and angioembolization may be warranted in selected cases with life‐threatening complications.
Gaia Brunetti +12 more
wiley +1 more source
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
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