BACKGROUND: Aminoacylase 1 (ACY1, EC 3.5.1.14) deficiency (ACY1D) is a very rare inherited metabolic disease (IMD) with autosomal recessive inheritance (OMIM #609924). Up to date, only 15 cases have been reported in the literature. It is diagnosed by detecting acetylated amino acids among the patient's urine organic acids by gas chromatography-mass spectrometry. Its clinical manifestations are highly variable, ranging from severe neurological symptoms to being asymptomatic. CASE DESCRIPTION: We present a 14-year-old boy with mild intellectual disability, speech sound disorder and non-alcoholic fatty liver disease who exhibited increased urinary excretion of N-acetylalanine, N-acetylmethionine and N-acetylglutamine during testing for inherited metabolic disorders. A suspected ACY1D was subsequently confirmed by targeted next generation sequencing, which revealed the presence of a homozygous pathogenic missense mutation in the ACY1 gene, c.1057C>T (p.Arg353Cys). The proband underwent speech education with good outcome. The same homozygous mutation in ACY1 gene was found in the boy's two brothers, who exhibited slightly varied intellectual abilities. Follow-up examinations of the siblings revealed no deterioration in their mental skills. CONCLUSIONS: These results suggest that uneven mental abilities in pediatric patients with various disorders including autism spectrum disorder may be sufficient grounds to warrant metabolic testing for ACY1D. The acylglycines urine excretion could be a promising novel metabolic marker for ACY1D testing.
- Publikační typ
- kazuistiky MeSH
BACKGROUND: Pediatric acute pancreatitis (AP) is rare but increasing. Severe AP is associated with higher morbidity and mortality. However, there are no universally accepted prognostic criteria for AP. METHODS: This retrospective study included children with AP admitted to an intensive care unit (ICU) of our tertiary pediatric center between January 2009 and December 2018. The severity of organ dysfunction in AP was assessed according to the modified Atlanta criteria using the Pediatric Sequential Organ Failure Assessment (pSOFA) and Computed Tomography Severity Index (CTSI). RESULTS: Seventy acute episodes of AP were evaluated in 55 children with primary pancreatitis. In addition, secondary AP was diagnosed in 15 patients originally admitted to ICU for different indications. Mild AP [no organ dysfunction, normal computed tomography (CT) finding] was the most prevalent (64/85 episodes in 49 children), followed by moderate AP (15 children; pSOFA 2-9 points, CTSI 3-4 points on admission). Severe AP (pSOFA 4-17 points, CTSI 6-10 points) was diagnosed in 6 children with traumatic or secondary AP. The most frequent etiologies of primary AP episodes were idiopathic (39%) and biliary (31%). Children with idiopathic AP had frequent relapses and comorbidities. Hereditary AP was typically mild, but presented with high pancreatic enzyme levels and recurrence rates. Admission at ICU and an interval without enteral nutrition (EN) were relatively short in drug-induced AP and relatively long in secondary and traumatic AP. Endoscopic retrograde cholangiopancreatography (ERCP) was performed in 13 patients with biliary AP and in 4 patients with traumatic AP. No AP-related death was observed. CONCLUSION: pSOFA score accurately reflects the severity and prognosis of AP in children.
- MeSH
- akutní nemoc MeSH
- dítě MeSH
- jednotky intenzivní péče MeSH
- lidé MeSH
- lokální recidiva nádoru MeSH
- pankreatitida * diagnostické zobrazování etiologie MeSH
- prognóza MeSH
- retrospektivní studie MeSH
- stupeň závažnosti nemoci MeSH
- vyhodnocení orgánové dysfunkce MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Linezolid is an antibiotic increasingly used for treatment of resistant Gram-positive infections, which blocks bacterial proteosythesis through direct inhibition of mitochondrial ribosomes. The most common adverse effects of linezolid include gastrointestinal symtoms, peripheral neuropathy, bone marrow depression and lactic acidosis. Here we present a rare case of a 9-year-old female, a survivor of acute lymphoblastic leukemia (ALL) and a hematopoietic stem cell transplant (HSCT), who developed life-threatening lactic acidosis with vomiting, impaired consciousness and Kussmaul breathing after 51 days of intravenous linezolid administration due to mycobacterial infection. She fully recovered after drug discontinuation and normalization of the plasma levels. We conclude that plasma lactate concentrations should be monitored closely during any linezolid treatment, particularly in patients with hepatic or renal dysfunction.
BACKGROUND: Autoimmune hepatitis (AIH) is a rare progressive liver disease, which manifests as acute hepatitis in 40%-50% of pediatric cases. This refers predominantly to spontaneous exacerbations of previously unrecognized subclinical AIH with laboratory and histological signs of chronic hepatitis, or to acute exacerbations of known chronic disease. Only a few of these patients fulfill criteria for acute liver failure (ALF). METHODS: Forty children diagnosed with AIH in our center between 2000 and 2018 were included in this study. All of them fulfilled revised diagnostic criteria of the International Autoimmune Hepatitis Group (IAIHG) for probable or confirmed AIH, and other etiologies of liver diseases were excluded. Patients were divided into two groups: acute AIH (A-AIH) or chronic AIH (C-AIH). RESULTS: Acute onset of AIH occurred in 19/40 children (48%). Six of them fulfilled the criteria of ALF with coagulopathy and encephalopathy. Five of 6 children with ALF suffered from exacerbation of previously undiagnosed chronic AIH, among which 4 children were histologically confirmed as micronodular cirrhosis. The remaining one patient had fulminant AIH with centrilobular necrosis, but no histological signs of previous chronic liver damage. We observed significantly lower levels of albumin, higher levels of aminotransferases, bilirubin, INR, IgG, higher IAIHG score and more severe histological findings in A-AIH than in C-AIH. No differences in patient age and presence of autoantibodies were observed between A-AIH and C-AIH. All children, including those with ALF and cirrhosis, were treated with corticosteroids, and are alive and achieved AIH remission. Liver transplant was not indicated in any patient. CONCLUSION: Rapid and accurate diagnosis of A-AIH may be difficult. However, timely start of immunosuppressive therapy improves prognosis and decreases number of indicated liver transplantations in children with AIH.
- MeSH
- akutní nemoc MeSH
- akutní selhání jater etiologie MeSH
- autoimunitní hepatitida komplikace diagnóza farmakoterapie MeSH
- dítě MeSH
- imunosupresiva terapeutické užití MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Sclerosing cholangitis (SC) is a chronic cholestatic hepatobiliary disease with uncertain long-term prognosis in pediatric patients. This study aimed to evaluate long-term results in children with SC according to the types of SC. METHODS: We retrospectively followed up 25 children with SC over a period of 4-17 years (median 12). The diagnosis of SC was based on biochemical, histological and cholangiographic findings. Patients fulfilling diagnostic criteria for probable or definite autoimmune hepatitis at the time of diagnosis were defined as having autoimmune sclerosing cholangitis (ASC); other patients were included in a group of primary sclerosing cholangitis (PSC). The incidence of the following complications was studied: obstructive cholangitis, portal hypertension, advanced liver disease and death associated with the primary disease. RESULTS: Fourteen (56%) patients had PSC and 11 (44%) had ASC. Patients with ASC were significantly younger at the time of diagnosis (12.3 vs 15.4 years, P=0.032) and had higher IgG levels (22.7 vs 17.2 g/L, P=0.003). The mentioned complications occurred in 4 (16%) patients with SC, exclusively in the PSC group: one patient died from colorectal cancer, one patient underwent liver transplantation and two patients, in whom severe bile duct stenosis was present at diagnosis, were endoscopically treated for acute cholangitis. Furthermore, two other children with ASC and 2 children with PSC had elevated aminotransferase levels. The 10-year overall survival was 95.8% in all patients, 100% in patients without complicated liver disease, and 75.0% in patients with complications. CONCLUSION: In children, ASC is a frequent type of SC, whose prognosis may be better than that in patients with PSC.
- MeSH
- autoimunitní hepatitida diagnóza farmakoterapie epidemiologie mortalita MeSH
- biologické markery krev MeSH
- časové faktory MeSH
- dítě MeSH
- imunoglobulin G krev MeSH
- imunosupresiva terapeutické užití MeSH
- incidence MeSH
- Kaplanův-Meierův odhad MeSH
- konečné stadium selhání jater epidemiologie MeSH
- lidé MeSH
- mladiství MeSH
- následné studie MeSH
- obstrukční žloutenka epidemiologie MeSH
- portální hypertenze epidemiologie MeSH
- prognóza MeSH
- progrese nemoci MeSH
- proporcionální rizikové modely MeSH
- retrospektivní studie MeSH
- rizikové faktory MeSH
- sklerozující cholangitida diagnóza farmakoterapie epidemiologie mortalita MeSH
- věkové faktory MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- srovnávací studie MeSH
- Geografické názvy
- Česká republika epidemiologie MeSH
Úvod. S nárůstem obézních dětí a adolescentů přibývá pacientů s nealkoholickým ztučněním jater (NAFLD) a pacientů s prokázaným metabolickým syndromem (MS). U dětských pacientů s NAFLD jsme v retrospektivní studii sledovali jejich vztah k MS. Metody. Diagnóza NAFLD byla stanovena na základě zvýšených hladin transamináz a sonografického obrazu. MS byl definován podle kritérií Mezinárodní diabetologické federace. Jaterní biopsie byla provedena u pacientů se zvýšením transamináz déle než 1 rok. Histologická aktivita vzorků byla hodnocena podle skóre aktivity NAFLD (NAS) a podle pediatrického histologického skóre NAFLD (PNHS). Výsledky. NAFLD bylo diagnostikováno u 39 dětí a 20 dětí splnilo kritéria pro MS. Mezi pacienty s MS a bez MS byl signifikantní rozdíl ze sledovaných parametrů v inzulinové rezistenci (IR) (< 0,001), hladině cholesterolu (< 0,04) a GMT (< 0,05). Jaterní biopsie byla provedena u 20 dětí, z toho u 10 dětí s MS. U těchto souborů nebyl rozdíl v rozsahu steatózy a NAS. Nebyl nalezen rozdíl v kritériích pro MS včetně sledovaných parametrů u dětí s nealkoholickou steatohepatitidou (NASH) a bez NASH hodnocených podle PNHS. Závěr. Rizikovými faktory pro vznik NAFLD jsou obezita, přítomnost inzulinové rezistence a dyslipidémie, které se úzce váží k MS. K určení histologické aktivity NAFLD je nutná biopsie, protože žádné neinvazivní vyšetření neurčí jednoznačný rozsah jaterního postižení.
Aim. In recent years, nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome (MS) in children have increased in line with the increased prevalence of obesity. The aim of this retrospective study was to evaluate a relation between NAFDL and MS in children. Methods. NAFLD was defined as an elevation of serum transaminase level and hyperechogenic feature of liver on ultrasonography. MS definition was based on the diagnostic criteria of the International Diabetes Federation. The biopsies were done in patients with elevated transaminase levels lasting more than one year. Liver biopsy features were graded according to the NAFLD activity scoring (NAS) and Paediatric NAFLD Histological Score (PNHS). Results. NAFLD was diagnosed in 39 patients and MS was confirmed in 20 patients. The significant differences between patients with MS and without MS were found in the insulin resistance (IR) (P < 0,001), cholesterol levels (P < 0,04) and GGT levels (P < 0,05). Biopsies were done in 20 patients. MS was present in 10 children. No difference was found in the degree of steatosis and NAS in groups with and without MS. No differences were observed in the occurrence of MS diagnostic criteria between patients with and without nonalcoholic steatohepatitis which were evaluated by PNHS. Conclusion. Prediction factors for NAFLD are obesity, IR, dyslipidemia. NAFLD is frequently associated with MS. Liver biopsy is necessary for determination of NAFLD histological activity because no non-invasive examination defines the degree of liver pathology.
- Klíčová slova
- nealkoholické ztučnění jater, portální zánět, nealkoholická steatohepatitida,
- MeSH
- biopsie MeSH
- dítě MeSH
- dyslipidemie * MeSH
- gama-glutamyltransferasa krev MeSH
- HDL-cholesterol krev MeSH
- index tělesné hmotnosti MeSH
- inzulinová rezistence * MeSH
- játra patologie MeSH
- krevní tlak MeSH
- lidé MeSH
- metabolický syndrom * diagnóza komplikace MeSH
- mladiství MeSH
- nemoci jater diagnóza epidemiologie MeSH
- obezita * MeSH
- retrospektivní studie MeSH
- rizikové faktory MeSH
- statistika jako téma MeSH
- transaminasy krev MeSH
- ztučnělá játra * diagnóza komplikace patologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
Cíl: Studie s hyperbarickou kyslíkovou terapií (HBOT) u dospělých pacientů ukázaly, že tato léčba je relativně bezpečná a mohla by být potenciální terapií pro dětské pacienty se závažným kraniocerebrálním poraněním (KCP). Soubor a metodika: V období od června 2006 do únoru 2010 bylo doporučeno k HBOT sedm pacientů ve věku 2–17 let z 15 dětí se závažným KCP, které byly léčeny na dětské jednotce intenzivní a resuscitační péče (JIRP). U všech přijatých pacientů bylo hodnoceno Glasgow Coma Scale (GCS) při přijetí a před propuštěním z JIRP, Paediatric Risk of Mortality Score (PRISM) při přijetí na JIRP a Glasgow Outcome Scale (GOS) a endokrinní funkce šest měsíců od úrazu. HBOT probíhala 80 minut ve vícemístné hyperbarické komoře každých 24 hodin při absolutním tlaku dvě atmosféry. Výsledky: K HBOT byli indikováni pacienti s prodlouženou poruchou vědomí po ukončení akutní léčby KCP. Medián doby od úrazu k zahájení HBOT byl ? 17,7 dnů (10–22 dnů). U pacientů léčených hyperbarickým kyslíkem (HBO) bylo PRISM při přijetí a GCS po akutní léčbě signifikantně rozdílné od pacientů neléčených HBO (p < 0,001; resp. p = 0,003). Proběhlých sezení HBOT bylo průměrně ? 10,9 (3–22). Vedlejší účinky léčby byly registrovány u tří pacientů. Mezi pacienty, kteří byli léčeni HBO, a skupinou neléčených nebyl statistický rozdíl v GOS po šesti měsících od úrazu. U žádného pacienta nedošlo ke změnám neuroendokrinních funkcí. Závěr: HBOT může být přínosná jako doplňující léčba dětí a adolescentů s přetrvávající poruchou vědomí po akutní léčbě závažného KCP bez významných vedlejších účinků.
Aim: Recent studies have suggested that hyperbaric oxygen therapy (HBOT) might be a relatively safe and promising treatment for children patients with severe traumatic brain injury (TBI). Patients and methods: From June 2006 to February 2010 we referred seven (age 2–17 years) of the 15 children (11 male) after severe TBI (GCS ≤8) treated at our PICU to HBOT. We analysed Glasgow Coma Scale (GCS) before and after acute treatment, Paediatric Risk of Mortality (PRISM) on admission to PICU, Glasgow Outcome Scale (GOS) and endocrine functions after 6 months from an injury in all admitted patients. The patients received HBOT in a multiplace chamber. Oxygen (100% O2, compression to 2 ATA) was delivered to patients over 80 min every 24 h. Results: HBOT was indicated in patients who suffered prolonged disturbance of consciousness after an acute treatment of the TBI. The median interval from the injury to receiving HBOT was ? 17.7 days (10–22 days). GCS after an acute treatment and PRISM score on admission of children receiving HBOT were significantly different from children without HBOT (p <0.001 and p = 0.003, respectively). The patients received between 3 and 22 courses of HBOT (mean of ?10.9 sessions per patient). Adverse events were observed in three patients. There was no statistical difference in GOS between HBOT treated and untreated patients after six months from the injury. There were no changes in endocrine function in any of the patients. Conclusion: HBOT appears to be beneficial as an adjunctive treatment in children and adolescents with disturbed consciousness following an acute treatment of severe TBI with no major adverse events.
- Klíčová slova
- neuroprotektivní efekt, endokrinní funkce,
- MeSH
- dítě MeSH
- Glasgowská stupnice kómat MeSH
- hyperbarická oxygenace metody statistika a číselné údaje škodlivé účinky využití MeSH
- kraniocerebrální traumata klasifikace terapie MeSH
- lidé MeSH
- mladiství MeSH
- neuroendokrinní buňky fyziologie MeSH
- poruchy vědomí klasifikace terapie MeSH
- předškolní dítě MeSH
- stupeň závažnosti nemoci MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
