BACKGROUND Short stature (SS) is a relatively early sign of poor health. Only in 5% of cases we can explain it through the presence of endocrinological pathologies. Therefore, if SS is present since the first months of life, it is necessary to investigate all systemic disorders with secondary effects on growth. CASE PRESENTATION We report the case of a 16-months-old male infant with severe SS...

A slight increase of alanine-aminotransferase (ALT) levels is frequently observed (23.7%) in blood donors negative for hepatitis viruses (B and C) and alcohol abuse. The highest rate of subjects with ALT abnormalities was observed in men 20-40 years old, with a body mass index ≥ 25. Non-alcoholic fatty liver disease (NAFLD) is probably the most frequent cause of hypertransaminasemia in Italian ...

Background: HIV positive patients may be affected by hypertransaminasemia notwithstanding they are not coinfected with HCV and HBV. Aims: To understand the causes of this abnormality and what correlates are in terms of ultrasonic transient elastography (UTE) and ultrasonography (U) features and fibrosis scores. Methods: HIV positive patients with hypertransaminasemia have been studied. They und...

OBJECTIVE Various lines of evidence suggest that malfunctioning of the gut-liver axis contributes to hepatic damage of rodents and humans with nonalcoholic fatty liver disease. We evaluated the effects of short-term probiotic treatment in children with obesity-related liver disease who were noncompliant with lifestyle interventions. PATIENTS AND METHODS Twenty obese children (age 10.7 ± 2.1 y...

Introduction Systemic juvenile idiopathic arthritis (sJIA) accounts for 10-15% of JIA patients and is characterized by arthritis with fever, plus rash, generalized lymphadenopathy, hepatosplenomegaly and serositis. It is associated with significant morbidity and may be complicated with macrophagic activation syndrome (MAS). The use of anti-interleukin 1 (IL1) therapy results in dramatic improve...

Introduction Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker dystrophy (DMD/BMD) in male children and Pompe disease (PD) female with isolated hypertransaminasemia. Methods This multi-center, prospective enrolled patients aged 3–216 months serum alanine transam...

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Grzywna E, Kwiecień J. From the hypertransaminasemia symptoms to recognition of late-onset Pompe disease in a 12-year-old boy. Pediatria Polska - Polish Journal Paediatrics. 2021;96(3):220-222. doi:10.5114/polp.2021.109310. APA Grzywna, E., & Kwiecień, (2021). Paediatrics, 96(3), 220-222. https://doi.org/10.5114...

Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe cardiac involvement, generalized hypotonia and exitus early in life. Presenting symptoms and signs of the disease may be neglected or underestimated, thus delaying the diagnosis. Respirat...