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| http://dx.doi.org/10.1007/s12098-021-03890-7 | DOI Listing |
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Investigation of renal tubular function with newly diagnosed type 1 diabetes mellitus during diabetic ketoacidosis.
Diabetol Metab Syndr
November 2024
Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
Article Synopsis
- Proximal renal tubular dysfunction is common during diabetic ketoacidosis (DKA) in newly diagnosed type 1 diabetes, but previous studies have lacked comprehensive analysis of its multiple functions and have not explored distal tubular function.
- In a study involving patients with and without DKA, those with DKA showed significantly higher levels of urinary β2-microglobulin and lower blood pH and phosphorus reabsorption, indicating renal dysfunction.
- The findings suggest that DKA in type 1 diabetes may lead to multiple proximal tubular dysfunctions resembling transient Fanconi syndrome, while distal renal tubular acidosis is unlikely to be present.
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.
Severe Immune Thrombocytopenic Purpura in a Pediatric Patient With Fanconi Anemia: A Case Report.
Cureus
September 2024
General Practice, King Khalid University, Abha, SAU.
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder causing bone marrow failure and a higher cancer risk, where autoimmune issues like immune thrombocytopenic purpura (ITP) are quite uncommon.
- A case report details a six-year-old boy with FA who developed severe ITP, presenting challenges in management due to extremely low platelet counts and spontaneous bruising.
- Treatment included intravenous immunoglobulin and corticosteroids, which initially helped, but he ultimately responded well to rituximab, leading to improved platelet counts and a stable condition at follow-up.
A case report of fludarabine associated ectopic atrial bradycardia and literature review of fludarabine induced bradycardia.
Cardiooncology
August 2024
Division of Cardiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA.
Background: Fludarabine is a chemotherapeutic agent with lymphodepleting effects that is increasingly used as part of a conditioning regimen prior to allogeneic stem cell transplantation. Fludarabine is generally considered a relatively safe medication with only rare cases of cardiotoxic side effects.
Case Presentation: Here, we present a case of a 30-year-old woman who was undergoing conditioning for a haploidentical cell transplantation for treatment of Fanconi anemia with a 5-day course of daily fludarabine infusion.
Gemcitabine as chemotherapy of head and neck cancer in Fanconi anemia patients.
Oncogenesis
July 2024
Amsterdam UMC location Vrije Universiteit Amsterdam, Otolaryngology-Head and Neck Surgery, Head and Neck Cancer Biology & Immunology Section, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
Fanconi anemia (FA) is a rare hereditary disease resulting from an inactivating mutation in the FA/BRCA pathway, critical for the effective repair of DNA interstrand crosslinks (ICLs). The disease is characterized by congenital abnormalities, progressing bone marrow failure, and an increased risk of developing malignancies early in life, in particular head and neck squamous cell carcinoma (HNSCC). While ICL-inducing cisplatin combined with radiotherapy is a mainstay of HNSCC treatment, cisplatin is contra-indicated for FA-HNSCC patients.
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