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Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1.
CEN Case Rep
November 2024
Department of Pediatrics, Osaka Medical and Pharmaceutical University, 2-7 Daigaku-Machi, Takatsuki, Osaka, Japan.
Article Synopsis
- Maturity-onset diabetes of the young 1 (MODY1) is linked to large birth size and temporary low blood sugar in newborns, with a specific genetic mutation leading to more severe complications like Fanconi syndrome (FS).
- In a reported case, a patient was diagnosed with MODY1 due to abnormal kidney mitochondria found through electron microscopy before diabetes symptoms appeared, highlighting the complexity of the condition.
- Genetic testing later confirmed a pathogenic variant in the HNF4A gene, suggesting that mitochondrial dysfunction plays a crucial role in the development of both MODY1 and FS in this patient.
Glucose/Fructose Delivery to the Distal Nephron Activates the Sodium-Chloride Cotransporter via the Calcium-Sensing Receptor.
J Am Soc Nephrol
January 2023
Department of Nephrology and Mineral Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Article Synopsis
- - The study investigates how glucose and fructose influence the calcium-sensing receptor (CaSR) in the distal convoluted tubule, activating pathways that increase salt retention through the NaCl cotransporter (NCC) in response to sugar intake.
- - Experiments with various models, including human cells, mice, and perfused kidneys, revealed that glucose/fructose enhances the phosphorylation of SPAK and NCC, indicating activation of the WNK4-SPAK-NCC pathway reliant on the CaSR.
- - Both animal and human data suggest that the presence of glucose/fructose leads to higher levels of NCC and SPAK phosphorylation, highlighting a potential mechanism by which sugar intake affects salt balance in the body.
Acute Kidney Injury and Urinary and Histopathological Disorders in Kidney Transplant Patients with SARS-CoV-2 Infection.
Transplant Proc
October 2022
Department of Nephrology, Hospital Puerta del Mar, Cádiz.
Background: Acute kidney injury (AKI) is a manifestation of SARS-CoV-2 infection. The evidence in kidney transplant (KT) is limited, as there are scarce data about the histologic features in graft biopsies of these patients.
Material And Methods: A retrospective cohort study of KTs with SARS-CoV-2 infection from August 28, 2020, to April 23, 2021.
Effects of Sodium-Glucose Cotransporter 2 Inhibitors on Water and Sodium Metabolism.
Front Pharmacol
February 2022
The Second Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou, China.
Sodium-glucose cotransporter 2 (SGLT2) inhibitors exert hypoglycemic and diuretic effects by inhibiting the absorption of sodium and glucose from the proximal tubule. Currently available data indicate that SGLT2 inhibitors transiently enhance urinary sodium excretion and urinary volume. When combined with loop diuretics, SGLT2 inhibitors exert a synergistic natriuretic effect.
View Article and Find Full Text PDFAcute kidney injury manifesting as renal tubular acidosis with proximal and distal renal tubular dysfunction in a dog with acute pancreatitis.
J Vet Emerg Crit Care (San Antonio)
July 2022
Department of Small Animal Clinical Sciences, Institute of Veterinary Science, University of Liverpool, Neston, UK.
Objective: To describe the clinical presentation and management of a critically ill dog with profound renal tubular acidosis (RTA) with proximal and distal renal tubular dysfunction.
Case Summary: A 3-year-old neutered female Border Terrier was presented with frequent regurgitation resulting from acute pancreatitis with severe ileus. Venous acid-base analysis and complete urinalysis confirmed the presence of normal anion gap metabolic acidosis with inappropriately alkaline urine (pH 8), consistent with distal RTA.
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