Results 61 to 70 of about 6,819 (177)
BMC Nephrology, 2023 A 14-year-old male patient who suffered from limb numbness, fatigue, and hypokalemia was considered Graves’ disease (GD) complicated with thyrotoxic periodic paralysis (TPP) at the first diagnosis.
Jing Xu +5 more
doaj +1 more source
A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations [PDF]
Case Reports in Nephrology and Dialysis, 2020 Gitelman syndrome (GS) is an autosomal recessive disorder characterized by alkalosis, hypokalemia, and hypomagnesemia. Although hundreds of genetic variants associated with GS have been reported, many of them are categorized as of uncertain significance in ClinVar. Here, we describe a pediatric GS patient from a three-generation family whose mother and
Moena Ishikawa +7 more
openaire +3 more sources
Cancer Medicine, Volume 15, Issue 8, August 2026.ABSTRACT Radiation therapy (RT) is a mainstay of treatment for a myriad of cancers, often utilized for tumors that are unable to be resected, as well as an adjunct to surgery and chemotherapy. Unfortunately, many cancers are resistant to RT‐induced damage and subsequent cell death.
Joseph Carmicheal +4 more
wiley +1 more source
Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report. [PDF]
Nephrology (Carlton)ABSTRACT Gitelman syndrome (GS) is considered one of the most common hereditary renal tubular disorders, characterised by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. The primary cause of this disorder resides in the SLC12A3 gene, which encodes the ...
Tomás-Simó P +5 more
europepmc +3 more sources
Advanced Science, Volume 13, Issue 40, 17 July 2026.PD‐L1 is primarily expressed in renal tubules and upregulated in both murine models of AKI and renal biopsy samples from patients with AKI. PD‐L1 can promote adaptive TECs repair through interacting with BRCA1, independent of its canonical immunomodulatory function of T cells, and PD‐L1 supplementation may represent a promising therapeutic strategy for
Wei Jiang +17 more
wiley +1 more source
BMC Nephrology, 2019 Background Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy ...
Eduardo De la Cruz-Cano +7 more
doaj +1 more source
Advanced Science, Volume 13, Issue 26, 8 May 2026.This study delineates macrophage heterogeneity along the acute kidney injury to chronic kidney disease transition. Single‐cell RNA sequencing reveals a TRAP5+ scar‐associated macrophage subset driven by Spp1–Cd44 signaling and mitochondrial metabolic reprogramming.
Chenxi Wang +13 more
wiley +1 more source
Clinical Case Reports, 2017 Key Clinical Message Gitelman syndrome is an autosomal recessive disease mostly associated with loss‐of‐function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the ...
Ming‐Feng Xia +6 more
doaj +1 more source
Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models
Advanced Science, Volume 13, Issue 25, 4 May 2026.Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka +9 more
wiley +1 more source
Gitelman syndrome combined with complete growth hormone deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Se Ra Min +4 more
doaj +1 more source