Česko-slovenská pediatrie, 2023 (vol. 78), issue 3
Inherited disorders of carbohydrate metabolismKapitoly k atestaci z pediatrie
Tomáš Honzík, Jiří Zeman
Čes-slov Pediat 2023, 78(3):141-154 | DOI: 10.55095/CSPediatrie2023/019 
Introduction: Inherited metabolic disorders (IMD) of carbohydrates represent a heterogeneous group of >250 different diseases caused by impaired synthesis, transport or degradation of galactose, fructose, glucose, disaccharides, glycogen, glycosaminoglycans and glycoproteins/glycolipids. Individual IMD of carbohydrates are rare, but the overall incidence in the population is >1:5 000. Their diagnosis, except galactosemia in some countries is not part of laboratory neonatal screening of IMD and depends on clinical suspicion, biochemical and haematological analyses, and indication of selective metabolic screening. Material and methods: We summarize...
Late diagnosis of mucopolysaccharidosis type I in a girl with hand contracturesCase Histories
Hana Ptáčková, Helena Poupětová, Hana Vlášková, Tomáš Honzík, Pavel Ješina
Čes-slov Pediat 2023, 78(3):155-160 | DOI: 10.55095/CSPediatrie2023/020
Introduction: Mucopolysaccharidosis type I (MPS I) belongs to the group of lysosomal storage diseases, the cause of which is an inherited disorder of an enzyme catalyzing catabolism of glycosaminoglycans, which accumulate in tissues. The disease manifests with varying severity and variability of clinical symptoms, that progress over time. Given the existence of targeted therapies, i.e. enzyme replacement therapy and hematopoietic stem cell transplantation, that prevent the development of the symptoms or significantly slow the progression of the disease, early diagnosis is crucial. Method: We present a case study of a girl, who suffers from MPS I (m....
Hepatocellular carcinoma in an infant with tyrosinemia type 1Case Histories
Silvie Kelifová, Tomáš Honzík, Markéta Tesařová, Lucie Gonsorčíková, Eva Sticová, Jana Mašková, Josef Mališ, Jiří Froněk, Jiří Zeman
Čes-slov Pediat 2023, 78(3):161-165 | DOI: 10.55095/CSPediatrie2023/021
Tyrosinemia type 1 is a rare metabolic disease with autosomal recessive inheritance caused by biallelic mutations in the FAH gene, leading to impaired activity of fumarylacetoacetate hydrolase, a key enzyme in tyrosine metabolism. In children with TYR 1, an activation of alternative metabolic pathway leads to an overproduction of toxic metabolites, mainly succinylacetone and fumarylacetoacetate, which damage hepatocytes and renal tubular cells. Clinically, TYR 1 presents with acute progression to liver and renal failur e at an early age or chronically with the development of liver fibrosis, cirrhosis, rickets and hepatocellular carcinoma, manifestations...
Is the LATCH scoring system a reliable predictor of breastfeeding duration?Original Papers
Adéla Střídová, Hana Burčková, Elena Kuldanová, Adéla Vrtková, Hana Wiedermannová
Čes-slov Pediat 2023, 78(3):166-171 | DOI: 10.55095/CSPediatrie2023/022
Introduction: The current growing trend of early discharge of newborns from hospital increases the importance and need for an assessment of breastfeeding effectiveness in the first days of a baby's life. In this study, we have selected the LATCH scoring system to study the relationship of the early breastfeeding assessment and the exclusive breastfeeding rate at discharge, at 6 weeks, 4 and 6 months postpartum. Methods: We have analyzed the relationship between the LATCH score and exclusive breastfeeding in a study group of 308 children. The LATCH score was assessed first within 24 hours of birth and second at hospital discharge. In addition, we have...
Partial breastfeeding at discharge does not predict insufficient breastfeeding in the first six monthsOriginal Papers
Marcela Křížová, Jana Kollárová, Zbyněk Straňák
Čes-slov Pediat 2023, 78(3):172-175 | DOI: 10.55095/CSPediatrie2023/023
Exclusive breastfeeding is confirmed to be the optimal form of nutrition for children up to six months of age. Exclusive breastfeeding at discharge from the hospital is considered a prerequisite for successful and long-lasting breastfeeding. However, many newborns are discharged on only partial breastfeeding or artificial formula. The aim of this study was to analyse the type of nutrition at age 3 months and 6 months in babies who were not exclusively breastfed at discharge from delivery hospital. In a prospective observational study, total number of 72 healthy term newborn were analysed, o f them, 63 were partially breastfed at discharge and 9 of...
GLP-1 analogues in therapy of obese adolescents. Early real-life experience with liraglutide treatmentThe epidemic of childhood obesity
Jana Křenek Malíková, Jan Lebl
Čes-slov Pediat 2023, 78(3):176-181 | DOI: 10.55095/CSPediatrie2023/024
The GLP-1 analog liraglutide is registered for pharmacotherapy of obese adolescents aged 12-17 years since 2021. According to clinical studies, liraglutide administration leads to a mean weight loss 4.6%. We summarize early real-life experience with this novel therapy. Nine boys were treated with liraglutide under the supervision of out-patient clinic for obesity of Department of Pediatrics, University Hospital Motol between September 2021 and January 2023. At treatment onset, they were 12.0-16.5 years old (median 15), and had body weight 74-188 Kg (median 123) and BMI 30.7-65.9 Kg/m2 (median 38.6). Therapy was initiated following failure...
Sclerosing cholangitis in children with inflammatory bowel diseaseReview
Eva Vlčková, Katarína Mitrová
Čes-slov Pediat 2023, 78(3):182-186 | DOI: 10.55095/CSPediatrie2023/025
Primary sclerosing cholangitis is a chronic progressive disease of the biliary tract. There are many differences between adult primary sclerosing cholangitis and juvenile type. Major part of pediatric PSC patients will develop inflammatory bowel disease (IBD). The phenotype of IBD in patients with PSC-IBD differs from those without associated PSC and is characterized by a milder course and typical findings of pancolitis, rectal sparing and backwash ileitis. Endoscopic activity of the disease is more often present despite the absence of symptoms suggesting subclinical inflammation. The course of PSC associated with Crohn's disease is usually less severe...