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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 PDFIntroduction: Elexacaftor/tezacaftor/ivacaftor (ETI) has shown significant improvements in pulmonary and nutritional status in persons with cystic fibrosis (pwCF). Less is known about the extrapulmonary impact of ETI and effects on airway microbiology, lung clearance index (LCI) and fraction of exhaled nitric oxide (FeNO).
Methods: A multicentre prospective observational trial, including 79 pwCF ≥ 18 years eligible for ETI.
Elevated serum vitamin B12 concentrations in a patient with pancreatic exocrine insufficiency.
Biomark Med
January 2025
The Nutristasis Unit, Synnovis, St. Thomas' Hospital, London, UK.
This case describes a patient with pancreatic exocrine insufficiency and persistently elevated serum vitamin B12 concentrations that were not due to supplementation or associated with hepatic or hematological pathology. Laboratory investigations suggested the presence of macro-B12 as the cause of this patient's raised serum vitamin B12. Macro-B12 is often formed when vitamin B12-vitamin binding proteins (transcobalamin and haptocorrin) complex with immunoglobulins.
View Article and Find Full Text PDFControversial Roles of Regenerating Family Proteins in Tissue Repair and Tumor Development.
Biomedicines
December 2024
School of Pharmaceutical Sciences, Nanjing Tech University, Nanjing 211816, China.
: Over the past 40 years since the discovery of regenerating family proteins (Reg proteins), numerous studies have highlighted their biological functions in promoting cell proliferation and resisting cell apoptosis, particularly in the regeneration and repair of pancreatic islets and exocrine glands. Successively, short peptides derived from Reg3δ and Reg3α have been employed in clinical trials, showing favorable therapeutic effects in patients with type I and type II diabetes. However, continued reports have been limited, presumably attributed to the potential side effects.
View Article and Find Full Text PDFBackground And Aims: Pancreatic fluid collections (PFCs), including walled-off necrosis (WON), are significant complications of acute pancreatitis, and their management often involves drainage, although the optimal type of stent for this purpose remains uncertain. This meta-analysis aimed to compare metal versus plastic stents for endoscopic ultrasound (EUS)-guided drainage of PFCs.
Methods: We searched PubMed, Embase, and Cochrane Library for randomized controlled trials (RCTs) comparing metal with plastic stents for drainage of PFCs.
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