Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.
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http://dx.doi.org/10.1007/s13312-013-0173-2 | DOI Listing |
Eur J Vasc Endovasc Surg
January 2025
Department of Surgery, Division of Vascular and Endovascular Surgery, University of California, San Francisco, CA, USA.
Objective: This retrospective, single centre, comparative effectiveness study aimed to compare the long term outcomes of percutaneous arteriovenous fistulae (pAVF) and surgically created arteriovenous fistulae (sAVF) created in the proximal forearm for haemodialysis access.
Methods: Data were reviewed from a prospectively maintained database on patients who underwent pAVF or sAVF creation from September 2017 to September 2023. A total of 217 pAVFs (61 WavelinQ and 156 Ellipsys) and 158 sAVFs were analysed.
Pediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
Distal tibial fractures are common lower-limb injuries and are generally associated with a high risk of postoperative complications, especially in patients with multiple medical comorbidities. This study sought to ascertain the efficacy of retrograde intramedullary tibial nails (RTN) for treating extra-articular distal tibial fractures in high-risk patients. Between January 2019 and December 2021, 13 patients considered at high risk for postoperative complications underwent RTN fixation.
View Article and Find Full Text PDFKidney Int
February 2025
Department of Pediatrics, The Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada. Electronic address:
Sodium reabsorption is tightly coupled to calcium reabsorption in the proximal tubule via the action of the Na/H exchanger isoform 3 (NHE3). Poulsen et al. provide evidence of reduced proximal calcium reabsorption in kidney tubule-specific NHE3-deficient mice that is compensated distally, unaltered phosphate homeostasis, and NHE3 involvement in the hypocalciuric effect of thiazides.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, Hospital de Santa Luzia - Unidade Local de Saúde do Alto Minho, Viana do Castelo, PRT.
Primary Sjögren's syndrome (SS) is a systemic autoimmune disorder primarily affecting exocrine glands, that may occasionally present with severe extra-glandular manifestations. Although rarely, severe hypokalemia and respiratory muscle paralysis may be initial presentations. We report the case of a 33-year-old woman with a recent history of severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) infection who presented with headache and generalized muscle weakness.
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