AIM: Despite the high sensitivity of neonatal screening in detecting the classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, one of the unclear issues is identifying asymptomatic children with late onset forms. The aim of this nationwide study was to analyse the association between genotype and screened level of 17-hydroxyprogesterone in patients with the late onset form of 21-hydroxylase deficiency and to quantify false negativity. METHODS: In the Czech Republic, 1,866,129 neonates were screened (2006-2022). Among this cohort, 159 patients were confirmed to suffer from 21-hydroxylase deficiency, employing the 17-hydroxyprogesterone birthweight/gestational age-adjusted cut-off limits, and followed by the genetic confirmation. The screening prevalence was 1:11,737. Another 57 patients who were false negative in neonatal screening were added to this cohort based on later diagnosis by clinical suspicion. To our knowledge, such a huge nationwide cohort of false negative patients has not been documented before. RESULTS: Overall, 57 patients escaped from neonatal screening in the monitored period. All false negative patients had milder forms. Only one patient had simple virilising form and 56 patients had the late onset form. The probability of false negativity in the late onset form was 76.7%. The difference in 17-hydroxyprogesterone screening values was statistically significant (p<0.001) between severe forms (median 478.8 nmol/L) and milder (36.2 nmol/L) forms. Interestingly, the higher proportion of females with milder forms was statistically significant compared with the general population. CONCLUSIONS: A negative neonatal screening result does not exclude milder forms of 21-hydroxylase deficiency during the differential diagnostic procedure of children with precocious pseudopuberty.
- MeSH
- 17-alfa-hydroxyprogesteron * krev MeSH
- falešně negativní reakce MeSH
- kongenitální adrenální hyperplazie * diagnóza krev MeSH
- lidé MeSH
- novorozenec MeSH
- novorozenecký screening * metody MeSH
- steroid-21-hydroxylasa genetika MeSH
- věk při počátku nemoci MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
V kazuistickém sdělení prezentujeme případ patnáctileté dívky s hepatopatií nejasné etiologie. V klinickém nálezu dominovala horečka a laboratorní alterace jaterních enzymů. Extenzivní vyšetřovací program neprokázal infekci hepatotropními ani non-hepatotropními viry, autoimunitní nebo jiné méně časté neinfekční příčiny. Díky upřesnění anamnézy kontaktu s laboratorní myší bylo vyšetření zaměřeno na zoonózy, z nichž byla potvrzena leptospiróza. Ačkoli se jedná o relativně vzácnou bakteriální příčinu hepatopatie, bude nutné na tuto infekci častěji pomýšlet i v kontextu proběhlých povodní z podzimu roku 2024.
In the case report, we present a case of a 15-year-old girl with hepatopathy of unclear aetiology. Fever and laboratory alteration of liver enzymes dominated the clinical findings. The extensive investigation program did not show infection with hepatotropic or non-hepatotropic viruses, autoimmune or other less common non-infectious causes. By clarifying the history of contact with the laboratory mouse, the examination focused on zoonoses from which leptospirosis was found. Although this is a relatively rare bacterial cause of hepatopathy, it will be necessary to consider this infection in the context of the floods of autumn 2024.
- MeSH
- diferenciální diagnóza MeSH
- domácí zvířata * mikrobiologie MeSH
- enzymy analýza klasifikace krev MeSH
- hepatitida - protilátky analýza MeSH
- horečka neznámého původu diagnóza etiologie MeSH
- leptospiróza * diagnóza etiologie krev MeSH
- lidé MeSH
- mladiství MeSH
- nemoci jater diagnóza etiologie mikrobiologie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- ascites diagnóza etiologie MeSH
- celiakie * diagnóza komplikace MeSH
- edém * diagnóza etiologie klasifikace MeSH
- kojenec MeSH
- lidé MeSH
- nefrolitiáza diagnóza etiologie MeSH
- protein-glutamin:amin-gama-glutamyltransferasa 2 analýza MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Screening představuje významný preventivní nástroj pediatrie. Svou povahou spadá do prevence sekundární. Zahrnuje celoplošné, pravidelné, ministerstvem zdravotnictví definované (formou vyhlášky či metodického pokynu) screeningy, jmenovitě novorozenecký laboratorní screening, vyhledávání vývojové dysplazie kyčlí, vrozených a získaných sluchových vad, oftalmoskopické vyšetření k odhalení kongenitální katarakty a systém pravidelných preventivních prohlídek praktickým lékařem pro děti a dorost. Existují i další screeningová vyšetření, která však zatím nejsou důsledně celoplošná, například u novorozenců a kojenců ultrazvukové vyšetření vývojových vad urotraktu či vyhledávání kritických srdečních vad měřením saturace krve kyslíkem. Předkládaný článek pojednává o obecné úloze screeningu v pediatrii, jeho principech, metodách a rizicích.
Screening is an important preventive tool of paediatrics and secondary prevention. It includes nation-wide, regular, Ministry of Health-defined (in the form of decree or methodological guidance) screenings, namely neonatal laboratory screening, ultrasound screening for developmental hip dysplasia, congenital deafnees, ophthalmoscopic examination to detect congenital cataracts, and system of regular preventive appointments by a general practitioner for children and adolescents. There are other screening examinations, which are not yet consistently full-scale, for example in newborns and infant kidney´s ultrasound examination or measuring blood oxygen saturation to detect of critical heart defects. This article discusses the general role of screening in paediatrics, its principles, methods and risks.
Evidence on serological responses to vaccination in children exposed to ustekinumab (UST) or vedolizumab (VDZ) in utero is lacking. This multicentre prospective study aimed to assess the impact of prenatal exposure to UST or VDZ due to maternal inflammatory bowel disease (IBD) on serological responses to vaccination and other immunological parameters in exposed children. Children aged ≥ 1 year who were exposed in utero to UST or VDZ and completed at least 1-year of mandatory vaccination were included. We assessed the serological response to vaccination (non-live: tetanus, diphtheria, and Haemophilus influenzae B; live: mumps, rubella, and measles), whole blood count, and immunoglobulin levels. The control group comprised unexposed children born to mothers without IBD. A total of 23 children (median age, 25 months) exposed to UST (n = 13) or VDZ (n = 10) and 10 controls (median age, 37 months) were included. The serological response to vaccination was comparable between the UST and VDZ groups and controls, with an adequate serological response rate of ≥ 80%. Only children exposed to UST showed a slightly reduced serological response to mumps (67% vs. 86% in controls), whereas all children exposed to VDZ showed an adequate response. The majority of the exposed children had normal levels of individual immunoglobulin classes, similar to the controls. No severe pathology was observed in any of the children.Conclusion: Despite the limited sample size, our findings suggest that in utero exposure to VDZ or UST does not significantly impair the vaccine response or broader immunological parameters in exposed children.
- MeSH
- dítě MeSH
- gastrointestinální látky terapeutické užití škodlivé účinky MeSH
- humanizované monoklonální protilátky * škodlivé účinky terapeutické užití MeSH
- idiopatické střevní záněty * farmakoterapie imunologie MeSH
- kojenec MeSH
- lidé MeSH
- předškolní dítě MeSH
- prospektivní studie MeSH
- průřezové studie MeSH
- studie případů a kontrol MeSH
- těhotenství MeSH
- ustekinumab * terapeutické užití škodlivé účinky MeSH
- vakcinace * škodlivé účinky MeSH
- zpožděný efekt prenatální expozice * chemicky indukované imunologie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
BACKGROUND: Normalizing growth in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) requires a long-term maintenance of a fragile balance between hydrocortisone (HC) replacement and androgen suppression. The growth pattern in children with 21OHD-CAH diagnosed by clinical symptoms has been evaluated in numerous retrospective studies. The aim of this study was to evaluate growth of patients with 21OHD-CAH detected by newborn screening (NBS), prior to clinical symptoms. METHODS: Nation-wide NBS for 21OHD-CAH was implemented in the Czech Republic in 2006. Since then, 1,317,987 neonates were screened (2006-2017) and 21OHD-CAH was confirmed in 108 patients. Growth was evaluated as height-standard deviation score (SDS) at regular time-points, related to bone age and compared to recent population standards. In 88 patients, available data allowed long-term evaluation of growth, HC and fludrocortisone doses (in half-year intervals), with a median observation period of ten years. RESULTS: Body height in affected children was shorter between years 1-9 of life with a nadir at age 1-3 years. Their height did not differ from general population at the age 10-12 years. There were not found differences according to 21OHD-CAH severity. CONCLUSIONS: NBS is an effective secondary prevention tool for the early detection of 21OHD-CAH which improves growth patterns. A significant growth deceleration was observed during infancy and early childhood periods but with following height normalization. Growth pattern was not associated with the genotype of 21OHD, if patients have been detected by NBS.
- MeSH
- dítě MeSH
- genotyp MeSH
- hydrokortison terapeutické užití MeSH
- kojenec MeSH
- kongenitální adrenální hyperplazie * diagnóza genetika MeSH
- lidé MeSH
- novorozenec MeSH
- novorozenecký screening MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
