Motnje sinteze žolčnih kislin so skupina redkih dednih pre-snovnih bolezni, ki se kažejo s holestazo, odpovedjo ali cirozo jeter ter občasno s steatorejo in/ali nevrološkimi simptomi. Prepoznavanje ...ni vedno enostavno. Najpomembnejši korak k postavitvi diagnoze je njihova vključitev med diferencialno-diagnostične možnosti. V laboratorijskih izvidih je običajno prisotna holestaza z nizko vrednostjo gama-GT in nižjo ali normalno koncentracijo žolčnih kislin. Posamezne encimske motnje ugotavljamo z masno spektrometrijo urina, potrdimo pa jih z genetskim diagnosticiranjem. Večino motenj sinteze žolčnih kislin lahko uspešno dolgoročno zdravimo oralno s holno kislino.
The aim of this study was to evaluate rates of clinical remission, endoscopic remission, and mucosal healing after a 6-week treatment period with partial enteral nutrition (PEN) and to compare them ...to those obtained by standard exclusive enteral nutrition (EEN) treatment in children with active Crohn’s disease (CD). Twenty-five patients with active CD (median age 13.6 years, range 3.6–18.0) were recruited to either PEN (
n
= 12) or EEN (
n
= 13) treatment groups. The PEN group received 75% of their dietary needs from a polymeric formula plus one meal per day from an anti-inflammatory diet (AID). Patients were assessed at weeks 0, 1, 3, and 6 using clinical and laboratory parameters. Endoscopic assessment was performed at induction and week 6. On intention to treat analysis, clinical remission (Pediatric CD Activity Index < 10) was achieved in 69.2% and 75.0% of EEN and PEN patients, respectively (
p =
0.999). The endoscopic remission (Simple Endoscopic Score for CD (SES-CD) ≤ 2) rates were 45.5% in both groups, while mucosal healing rates (SES-CD = 0) were 45.5% with EEN and 27.3% with PEN (
p =
0.659).
Conclusion
: The results of our prospective pilot study suggest that PEN, allowing one meal from AID, could be as effective as EEN in inducing clinical and endoscopic remission in children with active CD. However, larger randomized controlled studies are warranted to confirm our findings.
Trial registration
: This clinical trial was registered under the number
ClinicalTrials.gov
identifier: NCT03176875
.
What is Known
:
•
Exclusive enteral nutrition is a first-line treatment in active pediatric Crohn’s disease; however, patients often find it difficult to adhere to
.
•
Exclusive enteral nutrition is more effective than corticosteroids in achieving mucosal healing.
What is New
:
•
This is the first prospective study on partial enteral nutrition in active pediatric Crohn’s disease, evaluating not only clinical, but also endoscopic remission
.
•
A novel approach of partial enteral nutrition that allows one meal per day from an anti-inflammatory diet was as effective as exclusive enteral nutrition in inducing clinical and endoscopic remission in active Crohn’s disease
.
Background and Objectives: The prevalence of pediatric non-alcoholic fatty liver disease is increasing. A lot of new data are published regularly. Materials and Methods: Original clinical studies, ...review articles, and guidelines in children were searched for and the most relevant included in this review. Results: A total of 138 retrieved papers were classified into pathogenesis, epidemiology, diagnosis, and treatment. Pathogenesis is currently explained with the “multi hit hypothesis”, with complex interactions of genetic and environmental factors which trigger inflammation in steatotic liver. The prevalence is rising. A diagnosis can be made with laboratory tests, imaging, and liver biopsy after the exclusion of other causes of liver steatosis. The mainstay of treatment is lifestyle modification consisting of dietary intervention and increased physical activity. The progression to liver cirrhosis can occur even in children. Conclusions: Non-alcoholic fatty liver disease in children is a part of a metabolic syndrome in the majority of patients. Due to its complex etiology and high prevalence, multidisciplinary teams, together with public health professionals, should be involved in its treatment.
Endoscopic ultrasound-guided fine needle aspiration biopsy (EUS FNAB) is a well established diagnostic method in adult patients, but is rarely used in the paediatric population. The Clinical ...Department of Gastroenterology at the University Clinical Centre Ljubljana and the Department of Cytopathology at the Institute of Pathology, Faculty of Medicine, University of Ljubljana, Slovenia, have been closely collaborating on EUS FNAB since the introduction in 2010. The aim of the study was to review the cases of EUS FNAB of pancreatic neoplasms in children.
In the digital archive of the Institute of Pathology (IP), Faculty of Medicine (FM), University of Ljubljana (UL), we found 6 cases of EUS FNAB in children, 3 had EUS FNAB of the pancreas, 2 of whom had a cytopathologic diagnosis of a tumour. In the first case, the lesion was ultrasonographically solid, and the cell sample contained branching papillary structures surrounded by aggregates of small cells with nuclear grooves. In the second case, the lesion was ultrasonographically cystic, and predominantly necrosis was seen, with only single preserved cells. Positive nuclear reaction for β-catenin was found in both cases by immunohistochemical staining.
In both cases, the cytopathological diagnosis of solid pseudopapillary neoplasm of the pancreas was made, the cases represent the totality of paediatric cases of pancreatic neoplasms from the Children's Hospital Ljubljana since 2010. There were no adverse events during and after EUS FNAB. A histopathological examination of the tumour resection specimens confirmed the cytopathological diagnosis.
Our experience indicates that EUS FNAB is a safe and effective method for diagnosing pancreatic neoplasms in the pediatric population, as supported by the findings in the literature.
Objective: A prospective trial suggests target infliximab trough levels of 3-7 μg/mL, yet data on additional therapeutic benefits and safety of higher trough levels are scarce.
Aim: To explore ...whether high infliximab trough levels (≥7 μg/mL) are more effective and still safe.
Material and methods: In this cohort study of 183 patients (109 Crohn's disease and 74 ulcerative colitis) on infliximab maintenance treatment at a tertiary referral center we correlated fecal calprotectin and C-reactive protein to trough levels (426 samples) at different time points during treatment. Rates of infections were compared in quadrimesters (four-month periods) with high trough levels to quadrimesters with trough levels <7 μg/mL during 420 patient-years.
Results: Fecal calprotectin and C-reactive protein (median interquartile range) were lower in patients with high trough levels (fecal calprotectin 66 mg/kg 30-257; C-reactive protein 3 mg/L 3-3) compared to trough levels below 7 μg/mL (fecal calprotectin 155 mg/kg 72-474; C-reactive protein 3 mg/L 3-14.5) (p < .001). High trough levels were superior also after excluding samples with trough levels <3 μg/mL from analysis. No differences in rates of infections were observed in quadrimesters with high trough levels (16/129 12.4%) compared to quadrimesters with trough levels <7 μg/mL (32/344 9.3%) (p = .32). Maintaining high trough levels resulted in 32% (interquartile range: 2-54%) increase of infliximab consumption.
Conclusion: High infliximab trough levels provide better control of inflammation in inflammatory bowel disease without increasing the risk of infection.
Nealkoholna maščobna spremenjenost jeter pri otrocih je kronična bolezen jeter, ki nastane zaradi kopičenja maščob v jetrih. Tesno je povezana z debelostjo in nekaterimi drugimi dejavniki tveganja. ...Njena pogostost se v razvitem svetu v zadnjih letih strmo povečuje, predvsem na račun naraščajočega števila otrok z debelostjo. Večinoma ne povzroča težav in jo naključno odkrijemo v sklopu diagnosticiranja drugih bolezni ali ob sistematskih pregledih. Če bolezen spremljajo tudi znaki vnetja jeter, govorimo o nealkoholnem steatohepatitisu, ki lahko vodi v cirozo jeter in končno jetrno odpoved. Pri začetnem diagnosticiranju uporabljamo neinvazivne metode (krvne preiskave, ultrazvočno preiskavo), dokončno diagnozo pa v nekaterih primerih postavimo z jetrno biopsijo. Ob tem moramo izključiti druge bolezni jeter in druge vzroke zamaščenosti jeter. O načinu in pogo-stosti sledenja otrok z nealkoholno maščobno spremenjenostjo jeter se odločamo glede na prisotnost dejavnikov tveganja in stopnjo jetrnih sprememb. Pri zdravljenju je najbolj pomembna sprememba življenjskega sloga z zmanjšanjem telesne mase in dejavnikov tveganja ter povečanjem telesne dejavnosti. Zdravljenja z zdravili ali s prehranskimi dodatki zaradi pomanjkanja dokazov zaenkrat ne priporočamo. Praktični pristop k otroku z maščobno spremenjenimi jetri prikazujemo s predstavitvijo kliničnega primera.
Cistična ehinokokoza ali hidatidna bolezen je široko endemična parazitoza, ki jo povzroča okužba z jajčeci trakulje Echinococcus granulosus. Kaže se lahko z različno klinično sliko, ki je odvisna od ...velikosti ciste in od organa, v katerem se tvori. V 70 % se pojavi v jetrih. Diagnozo potrdimo s serološkim testiranjem protiteles proti hidatidnim antigenom ter s slikovnim diagnosticiranjem (UZ ali CT/MRI). Metode zdravljenja vključujejo zdravljenje z albendazolom in/ali kirurške pristope, vključno s perkutano transhepatično sklerozacijo. Na uspešnost zdravljenja vplivata stopnja jetrnih cist in njihova umeščenost. Cistična ehinokokoza lahko poteka brezsimptomno, a obstaja veliko tveganje ponovitve. Pomembno je, da pri diferencialni diagnozi cističnih sprememb na jetrih pomislimo na okužbo z ehinokokom. Prikazujemo primer slučajno odkrite bolezni pri brezsimptomnem dečku.
Bile acids synthesis disorders are a group of rare inherited metabolic diseases that present with cholestasis, liver failure or cirrhosis and are sometimes accompanied by steatorrhoea and/or ...neurological symptoms. Their recognition is not always straightforward. The most important step in the diagnosis is to include them in the differential diagnosis. In the laboratory results, low gamma-GT cholestasis with low or normal concentrations of bile acids is usually seen. Specific enzyme deficiencies are detected by urine mass spectrometry and confirmed by genetic analysis. The majority of bile acids synthesis disorders can be successfully treated long-term orally with cholic acid.
Izhodišča: Cistična fibroza (CF) je najpogostejša kronična avtosomno recesivno dedna bolezen belcev. Kaže se s prizadetostjo številnih organov, zato se bolniki spremljajo v centrih CF s ...specializiranim multidisciplinarnim timom strokovnjakov. Eden takih je center CF Pediatrične klinike Ljubljana, kjer se vodijo vsi otroci in mladostniki s CF v Sloveniji. Od ustanovitve centra dalje vodimo zbirko podatkov o bolnikih, ki nam je v pomoč pri analizi razmer in pri primerjavi kakovosti obravnave naših bolnikov z drugimi evropskimi centri CF.
Metode: Izvedli smo retrospektivno raziskavo z namenom pregledati in oceniti kazalce bolezni otrok in mladostnikov s CF, vodenih na Pediatrični kliniki Ljubljana v letu 2020. Pri 78 vključenih bolnikih smo analizirali podatke o demografskih značilnostih, genetskih mutacijah, pljučni funkciji, prehranjenosti, kroničnih okužbah in zdravljenju s CFTR modulatornimi zdravili (angl. cystic fibrosis transmembrane conductance regulator, CFTR – regulator transmembranske prevodnosti pri cistični fibrozi). Za primerjavo z drugimi evropskimi centri smo uporabili podatke iz letnega poročila Evropskega registra CF za leto 2020.
Rezultati: Leta 2020 smo v našem centru obravnavali 78 bolnikov, izmed katerih je bilo 56 % (44/78) bolnikov moškega spola. Povprečna starost bolnikov je znašala 13,2 leta (SD 6,4 let), z razponom od 1,2 leta do 25,5 leta. Mutacija F508del je bila najpogosteje zastopana, saj je bilo kar 88,5 % nosilcev vsaj ene, pri 64,1 % obolelih pa je bila mutacija prisotna na obeh alelih. Povprečni forsirani izdihani volumen v 1 sekundi (FEV1) naših bolnikov je bil nad evropskim povprečjem, prevalenca kronične okužbe s povzročiteljem Pseudomonas aeruginosa pa nižja od evropskega povprečja. V letu 2020 smo 21 bolnikom uvedli CFTR modulatorno zdravilo, od tega 5 bolnikom lumakaftor/ivakaftor in 16 bolnikom eleksakaftor/tezakaftor/ivakaftor.
Zaključek: Kazalci kakovosti obravnave otrok in mladostnikov s CF v Sloveniji dosegajo in pogosto presegajo evropsko povprečje. Med prvimi državami v Evropi smo pričeli uvajati CFTR modulatorna zdravila, ki obetajo pomembno izboljšanje kliničnega stanja in kakovosti življenja bolnikov s CF.
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