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Inborn errors of metabolism in neonates and pediatrics on varying dialysis modalities: a systematic review and meta-analysis.
Pediatr Nephrol
November 2024
Department of Pediatric Nephrology & Transplantation, Children's Hospital of Richmond at the Virginia Commonwealth University, 1000 E Broad St, PO Box 980498, Richmond, VA, 23298, USA.
Background: Some inborn errors of metabolism (IEMs) resulting in aberrations to blood leucine and ammonia levels are commonly treated with kidney replacement therapy (KRT). Children with IEMs require prompt treatment, as delayed treatment results in increased neurological and developmental morbidity.
Objectives: Our systematic review in neonates and pediatrics evaluates survival rates and reductions in ammonia and leucine levels across different KRT modalities (continuous KRT (CKRT), hemodialysis (HD), peritoneal dialysis (PD)).
Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review.
Mol Genet Metab Rep
December 2024
Genetic Metabolic Division, Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates.
Article Synopsis
- CPS1 deficiency affects ammonia detoxification in the urea cycle, leading to potentially fatal hyperammonemia, particularly in newborns.
- A study at Tawam Hospital reviewed five patients with CPS1 deficiency from 2010 to 2023, revealing variations in outcomes and treatment responses.
- Most patients survived with treatments like Carglumic acid, though some experienced severe neurological issues, highlighting the disease's complexity and the need for ongoing management.
A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency.
J Pediatr Endocrinol Metab
October 2024
Liver Transplantation Center, Memorial Atasehir/Bahçelievler Hospitals, Istanbul, Türkiye.
Article Synopsis
- Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder affecting approximately 1 in 150,000-200,000 newborns, often causing severe hyperammonemia shortly after protein intake, leading to high mortality rates in early-onset cases.
- A case study of a newborn male with elevated ammonia levels due to CPS-1 deficiency shows he received urgent treatments, including dextrose infusion, ammonia-scavenging therapy, peritoneal dialysis, and ultimately, a liver transplant from his father at six months of age.
- The study highlights the potential benefits of liver transplantation in CPS-1 deficiency cases and suggests that carglumic acid could improve long-term
Role of albumin infusion in cirrhosis-associated complications.
Clin Exp Med
March 2024
Centre for Education, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Cirrhosis is an advanced-stage liver disease that occurs due to persistent physiological insults such as excessive alcohol consumption, infections, or toxicity. It is characterised by scar tissue formation, portal hypertension, and ascites (accumulation of fluid in the abdominal cavity) in decompensated cirrhosis. This review evaluates how albumin infusion ameliorates cirrhosis-associated complications.
View Article and Find Full Text PDFSunitinib-induced hyperammonemic encephalopathy in metastatic gastrointestinal stromal tumors: A case report.
World J Clin Cases
November 2023
Department of Internal Medicine, Keio University School of Medicine, Shinjuku-ku 160-8582, Tokyo, Japan.
Background: Sunitinib, a multi-targeted tyrosine kinase inhibitor (TKI), has been approved for the salvage treatment of gastrointestinal stromal tumors (GIST). Hyperammonemic encephalopathy is a rare but severe complication of sunitinib use. Here, we present the case of a 66-year-old male with metastatic GIST without underlying liver cirrhosis who developed sunitinib-induced hyperammonemic encephalopathy.
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