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The evolving concepts of KS-WNK1 effect on NCC activity.
Am J Physiol Renal Physiol
December 2024
Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico City, 14080 Mexico.
The field of the with no lysine kinases (WNKs) regulation of the thiazide-sensitive NaCl cotransporter (NCC) began at the start of the century with the discovery that mutations in two members of the family, WNK1 and WNK4, resulted in a condition known as Familiar Hyperkalemic Hypertension (FHHt). Since FHHt is the mirror image of Gitelman's syndrome that is caused by inactivating mutations of the SLC12A3 gene encoding NCC, it was expected that WNKs modulated NCC activity and that the increased function of the cotransporter is the pathophysiological mechanism of FFHt. This turned out to be the case.
View Article and Find Full Text PDFPlasma Exchange and N-Acetylcysteine Therapy in a Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting With Acute Renal Failure.
J Pediatr Hematol Oncol
January 2025
Departments of Pediatric Hematology.
Congenital thrombotic thrombocytopenic purpura (cTTP), which is associated with mutations in the gene for a disintegrin and metalloproteinase with a thrombospondin type 1 motif member 13 (ADAMTS13), is a chronic and lifelong disease. The clinical course is variable. Regularly using ADAMTS13-containing products such as fresh frozen plasma (FFP) for long-term prophylaxis is the most important treatment to prevent thrombotic microangiopathy (TMA) episodes.
View Article and Find Full Text PDFCase Series of Infection-Related Glomerulonephritis in Quebec Indigenous Peoples.
Can J Kidney Health Dis
December 2024
Division of Nephrology, McGill University, Montreal, QC, Canada.
Rationale: Infection-related glomerulonephritis (IRGN) is an immune-mediated glomerulonephritis caused by extra-renal infectious diseases. There has been an important shift in epidemiology in recent years, with a significant proportion of adults affected. The incidence of IRGN is higher amongst Indigenous populations and especially in those with multiple comorbidities.
View Article and Find Full Text PDFCalciphylaxis: A Case Report and Review of the Role of Sodium Thiosulphate and Other Treatment Modalities.
Cureus
November 2024
Nephrology, Colchester Hospital, Colchester, GBR.
Calciphylaxis is a rare and serious disorder almost exclusively seen in patients on dialysis or those with advanced chronic kidney disease (CKD) not on dialysis and is associated with very high mortality. We present the case of a 50-year-old male with a background of end-stage renal disease (ESRD) compliant with dialysis, parathyroid adenoma, secondary hyperparathyroidism, and high body mass index (BMI). Whilst receiving 31 doses of intravenous sodium thiosulphate (STS) over an 11-week period, the patient underwent surgical debridement of multiple painful ulcerative lesions in his lower abdomen and left thigh and then subsequently a subtotal parathyroidectomy at 70 days from admission.
View Article and Find Full Text PDFMonitoring Response Using Circulating Tumor DNA in Undifferentiated Pleomorphic Sarcoma: A Case Report.
Cureus
November 2024
Department of Medical Oncology, Stanford University, Stanford, USA.
Circulating tumor DNA (ctDNA) can be used to assess treatment response in patients with undifferentiated pleomorphic sarcoma (UPS). The importance of this is explored in our case of a 75-year-old man who was diagnosed with UPS of the right kidney. After a right nephrectomy and tumor resection, the patient was recovering well with initially undetectable, and then slightly elevated, circulating tumor DNA.
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