Results 31 to 40 of about 1,116 (166)
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
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
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
Bartter Syndrome With Normal Aldosterone Level and Acute Pancreatitis: An Unusual Presentation. [PDF]
Clin Case RepABSTRACT Bartter syndrome is a rare autosomal recessive renal tubulopathy, which classically presents with hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism. We report an atypical presentation in a 16‐year‐old male who was diagnosed following an initial manifestation of acute pancreatitis.
Ayaz N +8 more
europepmc +2 more sources
Nature Communications, 2020 Salt levels in culture affect the polarisation of Th17 cells, which normally protect the host from fungal and bacterial infections. Here, the authors study patients with salt-losing tubulopathies (SLT) to find that, while Th17 immunity is dampened in SLT
Rhys D. R. Evans +10 more
doaj +1 more source
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
openaire +3 more sources
Síndrome de Bartter como causa de atraso no crescimento e de surdez neurossensorial
Residência Pediátrica, 2023 Bartter syndrome (BS) is a rare renal tubulopathy, which typically becomes apparent during childhood. It is caused by an autosomal recessive inheritance which involves the kidneys’ ability to reabsorb sodium. This report depicts a case of an 18 month-old
Lorena Lago de Menezes +4 more
doaj +1 more source
Urinary Extracellular Vesicles and Salt-Losing Tubulopathies: A Proteomic Approach
Proteomes, 2020 Renal tubular cells release urinary extracellular vesicles (uEV) that are considered a promising source of molecular markers for renal dysfunction and injury.
Francesca Raimondo +4 more
doaj +1 more source
Chemotherapy-induced tubulopathy: a case report series
Frontiers in NephrologyAcquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction.
Mario Alamilla-Sanchez +6 more
doaj +1 more source
Molecular developments in renal tubulopathies [PDF]
Archives of Disease in Childhood, 2000 The renal tubule is responsible for the reabsorption of more than 99% of the water and sodium in the glomerular ultrafiltrate. Congenital or acquired tubular dysfunction can therefore readily cause profound electrolyte and volume disturbance. The tubule also has to regulate acid–base balance, mineral homoeostasis, and the excretion of organic anions ...
openaire +2 more sources