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Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation.
Pediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFAssessing the Sympatholytic Effects of SGLT2 Inhibitors in Anuric Haemodialysis Patients Using Microneurography: Study Protocol for a Mechanistic Proof-of-Concept Trial.
Kidney Blood Press Res
October 2024
Department of Nephrology, Royal Perth Hospital, Perth, Washington, Australia.
Article Synopsis
- * The aim is to determine whether SGLT2i can reduce SNS activity independently from its renal benefits, as previous studies primarily concentrated on its renal effects.
- * The study will involve 20 adult participants receiving empagliflozin for 6 weeks, measuring changes in SNS activity, heart rate variability, and overall endothelial function to explore its mechanisms and efficacy further.
Kidney involvement in myelodysplastic syndromes.
Clin Kidney J
August 2024
Sorbonne Université, Hôpital Saint-Antoine, Service de Médecine Interne et de l'Inflammation-(DHU i2B), Assistance Publique-Hôpitaux de Paris, Paris, France.
Introduction: The objective of this study was to describe kidney involvement in patients with myelodysplastic syndromes (MDS), their treatments, and outcomes.
Methods: We conducted a multicenter retrospective study in seven centers, identifying MDS patients with acute kidney injury (AKI), chronic kidney disease (CKD), and urine abnormalities.
Results: Fifteen patients developed a kidney disease 3 months after MDS diagnosis.
Single-cell RNA sequencing in diabetic kidney disease: a literature review.
Ren Fail
December 2024
Department of Nephrology, The Third Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Diabetic kidney disease (DKD) is the leading cause of end-stage renal disease (ESRD), and its pathogenesis has not been clarified. Current research suggests that DKD involves multiple cell types and extra-renal factors, and it is particularly important to clarify the pathogenesis and identify new therapeutic targets. Single-cell RNA sequencing (scRNA-seq) technology is high-throughput sequencing of the transcriptomes of individual cells at the single-cell level, which is an effective technology for exploring the development of diseases by comparing genetic information, reflecting the differences in genetic information between cells, and identifying different cell subpopulations.
View Article and Find Full Text PDFPrimary Renal Lymphoma: A Rare Cause of Bilateral Renal Enlargement and Acute Renal Failure in a Patient With Rheumatoid Arthritis.
Cureus
July 2024
Hematology and Medical Oncology, Charleston Area Medical Center, Charleston, USA.
Article Synopsis
- Primary renal lymphoma (PRL) is a rare form of non-Hodgkin's lymphoma affecting the kidneys without spreading to other areas.
- A 66-year-old woman experienced shortness of breath and acute renal failure, leading to a diagnosis of primary renal diffuse large B-cell lymphoma after detailed imaging and a renal biopsy.
- The patient was treated with R-CHOP chemotherapy, leading to a full recovery of kidney function and highlighting the need for prompt recognition and treatment of PRL to improve patient outcomes.
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