Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/jpc.16158 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Outcomes of kidney transplantation in patients with lysinuric protein intolerance.
Clin Kidney J
January 2025
Transplantation and Liver Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Background: Lysinuric protein intolerance (LPI) is a metabolic disorder that leads to dysfunctional intestinal absorption and kidney clearance of cationic amino acids. Chronic kidney disease develops in many LPI patients and leads to end-stage kidney disease in at least 10% of patients. Since data on kidney transplants in LPI patients are limited, we analysed the outcomes of LPI patients after transplantation in Finland.
View Article and Find Full Text PDFLysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report.
Nephron
September 2024
Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Ranica, Italy.
Introduction: Lysinuric protein intolerance (LPI) is a multisystemic inborn error of metabolism with a variable clinical expressivity that usually begins in childhood with growth failure and gastroenterological/neurological problems related to the altered urea cycle and, later, with complications involving the renal, pulmonary, and immunohematological systems.
Case Report: We present the case of a 40-year-old woman suffering from chronic kidney disease in the context of a LPI, whose diagnosis was challenging because the signs of the disease were always blurred and the patient never manifested critical episodes typical of this multisystemic disease. In addition to renal disease, splenomegaly, thrombocytopenia, elevated lactate dehydrogenase (LDH), hyperferritinemia, and hypertriglyceridemia were also present.
Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report.
Ital J Pediatr
June 2024
Pediatric Center, MTA Center of Excellence, Semmelweis University, Bókay J. u. 53-54, Budapest, 1083, Hungary.
Article Synopsis
- Lysinuric protein intolerance (LPI) is a metabolic disorder affecting the absorption of certain amino acids, leading to symptoms like vomiting and pulmonary issues in infants.
- The case study discusses an 8-month-old infant who experienced respiratory failure due to LPI and pulmonary alveolar proteinosis (PAP), treated with whole-lung lavage (WLL) and GM-CSF therapy.
- The findings suggest that GM-CSF therapy may help patients with LPI-associated PAP, but additional research is needed to understand how it works in this context.
Introduction: Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease. It is caused by a deficiency in cationic amino acid transport caused by mutations in SLC7A7 gene.
Aim: To identify the clinical, diagnostic and therapeutic features of lysnuric protein intolerance.
Lysinuric protein intolerance (LPI), caused by pathogenic variants of is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficiency, pulmonary alveolar proteinosis, and osteoporosis. We report the case of a 47-year-old Japanese woman who was initially diagnosed with renal tubular acidosis (RTA), Fanconi syndrome, and rickets.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!