Tranzientní hypogamaglobulinemie je poměrně častá primární protilátková imunodeficience kojenců a batolat se širokým klinickým obrazem. Patofyziologickým podkladem je opožděný nástup tvorby vlastních imunoglobulinů, rezultující v přechodný pokles sérové koncentrace IgG u kojence. THI většinou spontánně odezní ve věku 2 až 6 let. V laboratoři dominuje snížená sérová koncentrace IgG (ev. i IgA a IgM) při normálním zastoupení B-lymfocytů. V diferenciální diagnostice zvažujeme i jiné imunodeficience. Velmi důležitá je mezioborová spolupráce.
Transient hypogammaglobulinemia is a relatively common primary antibody immunodeficiency in infants and toddlers with a wide clinical picture. The pathophysiological basis is a delayed onset of the production of own immunoglobulins, resulting in a temporary decrease in serum IgG concentration in the infant. THI usually resolves spontaneously between the ages of 2 and 6 years. In the laboratory, a reduced serum IgG concentration (possibly also IgA and IgM) dominates with a normal representation of B-lymphocytes. In the differential diagnosis, we also consider other immunodeficiencies. Interdisciplinary cooperation is very important.
- Klíčová slova
- THI, etiopathogenesis, clinical evaluation, differential diagnosis, treatment, THI, etiopatogeneze, klinické hodnocení, diferenciální diagnostika, léčba,
- MeSH
- alergie etiologie imunologie MeSH
- antibakteriální látky terapeutické užití MeSH
- běžná variabilní imunodeficience * diagnóza epidemiologie terapie MeSH
- dermatitida etiologie imunologie MeSH
- diferenciální diagnóza MeSH
- dítě * MeSH
- imunologické testy MeSH
- infekce dýchací soustavy etiologie imunologie MeSH
- intravenózní imunoglobuliny terapeutické užití MeSH
- lidé MeSH
- Check Tag
- dítě * MeSH
- lidé MeSH
Bartterov syndróm zahŕňa skupinu vzácnych geneticky podmienených tubulopatií sprevádzaných zvýšenými močovými stratami solí. Patogenetickým podkladom je porucha transportných systémov zodpovedných za reabsorpciu solí predovšetkým v hrubom segmente vzostupného ramienka Henleho kľučky. Medzi základné charakteristiky Bartterovho syndrómu patrí hypokaliemická, hypochloremická metabolická alkalóza a sekundárny (hyperrenínový) hyperaldosteronizmus pri normálnom alebo nízkom systémovom krvnom tlaku. Klinické prejavy sa líšia v závislosti od postihnutého génu, pričom rozoznávame 5 rôznych génovo-špecifických fenotypov ochorenia. V článku uvádzame súbor 8 pacientov z Českej republiky a Slovenska s geneticky potvrdeným Bartterovým syndrómom a ich klinický a laboratórny fenotyp.
Bartter syndrome includes a group of rare genetically determined tubulopathies accompanied by increased urinary salt losses. The pathogenetic basis is a disorder of transport systems responsible for the reabsorption of salts, primarily in the thick ascending limb of the loop of Henle. The basic characteristics of Bartter syndrome include hypokalemic, hypochloremic metabolic alkalosis and secondary (hyperreninemic) hyperaldosteronism with normal or low systemic blood pressure. Clinical manifestations vary depending on the affected gene, with five different gene-specific phenotypes of the disease being recognized. In the article, we present a group of 8 patients from the Czech Republic and Slovakia with genetically confirmed Bartter syndrome and their clinical and laboratory phenotype.
- MeSH
- Bartterův syndrom * genetika klasifikace patofyziologie patologie MeSH
- dítě * MeSH
- lidé MeSH
- Check Tag
- dítě * MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- klinická studie MeSH
BACKGROUND: Several previous studies have reported a more severe course of nephrotic syndrome in children with low birth weight. PATIENTS: Cohort of 223 children with idiopathic nephrotic syndrome. METHODS: We aimed to investigate the association between course of nephrotic syndrome and low birth weight. Data from seven paediatric nephrology centres were used. RESULTS: Children with low birth weight had 3.84 times higher odds for a more severe course of steroid-sensitive nephrotic syndrome (95% CI 1.20-17.22, P=0.041), and those with low birth weight and remission after 7 days had much higher odds for a more severe course of disease (OR 8.7). Low birth weight children had a longer time to remission (median 12 vs. 10 days, P=0.03). They had a higher need for steroid-sparing agents (OR for the same sex=3.26 [95% CI 1.17-11.62, P=0.039]), and the odds were even higher in females with low birth weight (OR 6.81). There was no evidence of an association either between low birth weight and focal segmental glomerulosclerosis or between low birth weight and steroid-resistant nephrotic syndrome. DISCUSSION: We conducted the first multicentric study confirming the worse outcomes of children with NS and LBW and we found additional risk factors. CONCLUSIONS: Low birth weight is associated with a more severe course of steroid-sensitive nephrotic syndrome, while being female and achieving remission after 7 days are additional risk factors.
- MeSH
- dítě MeSH
- fokálně segmentální glomeruloskleróza farmakoterapie MeSH
- glukokortikoidy terapeutické užití škodlivé účinky MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- nefrotický syndrom * farmakoterapie MeSH
- novorozenec s nízkou porodní hmotností * MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- rizikové faktory MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
BACKGROUND: X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine clinical sequencing. Nevertheless, structural variants involving AVPR2 are challenging to identify accurately by conventional genetic testing. Here, we report a novel deletion of AVPR2 in a Czech family identified for the first time by targeted long-read sequencing (T-LRS). METHODS: A male proband with X-linked NDI underwent clinical sequencing of the AVPR2 gene that failed and thus indicated possible whole-gene deletion. Therefore, PCR mapping and subsequent targeted long-read sequencing (T-LRS) using a Pacific Biosciences sequencer were applied to search for the suspected deletion. To validate the deletion breakpoints and prove variant segregation in the family with X-linked NDI, Sanger sequencing of the deletion junction was performed. Quantitative real-time PCR was further carried out to confirm the carrier status of heterozygous females. RESULTS: By T-LRS, a novel 7.5 kb deletion of AVPR2 causing X-linked NDI in the proband was precisely identified. Sanger sequencing of the deletion junction confirmed the variant breakpoints and detected the deletion in the probands ́ mother, maternal aunt, and maternal cousin with X-linked NDI. The carrier status in heterozygous females was further validated by quantitative real-time PCR. CONCLUSIONS: Identifying the 7.5 kb deletion gave a precise molecular diagnosis for the proband, enabled genetic counselling and genetic testing for the family, and further expanded the spectrum of structural variants causing X-linked NDI. Our results also show that T-LRS has significant potential for accurately identifying putative structural variants.
- MeSH
- diferenciální diagnóza * MeSH
- dítě MeSH
- lidé MeSH
- makroglosie * diagnóza etiologie klasifikace MeSH
- týmová péče o pacienty MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
- Klíčová slova
- subkonjunktivální sufuze,
- MeSH
- antihypertenziva terapeutické užití MeSH
- dítě MeSH
- glomerulonefritida * diagnóza farmakoterapie MeSH
- hypertenze diagnóza farmakoterapie MeSH
- konjunktivitida patologie MeSH
- krvácení do oka * etiologie MeSH
- lidé MeSH
- Streptococcus pyogenes izolace a purifikace patogenita MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Obesity has become a serious medical condition where many factors can contribute to excess weight gain. The most common type of childhood obesity is simple obesity, which is due to gene-obesogenic environment interaction. Only a minority are due to pathological causes. Secondary causes of obesity, while less common, include these: genetic syndromes, drug-related obesity, as well as endocrine disorders (hypothyroidism, Cushing's syndrome, growth hormone deficiency, hypogonadism, pseudohypoparathyroidism type Ia, insulinoma, hypothalamic obesity and polycystic ovary syndrome). Given that some conditions may be treatable, physicians must be aware of obesity due to endocrinopathies and distinguish them from simple obesity, and treat them properly. Although rare among children, early detection of the endocrine cause of obesity leads to reduced morbidity and, in some cases, reduced mortality in these individuals. The aim of this review is to summarize the current findings on obesity-related endocrinopathies in children (illustrated by clinical examples), highlighting aspects of pathogenetic mechanisms, genetics, the clinical diagnosis, growth, body mass index and possible therapeutic approaches. Early detection and correction of endocrine obesity is of paramount importance for obese children who could benefit from timely diagnosis and an improved management of obesity as many disturbances related to obesity can be reversed at the early stage, if weight loss is achieved.
- MeSH
- dítě MeSH
- hypotyreóza * MeSH
- lidé MeSH
- mladiství MeSH
- morbidní obezita * MeSH
- nadváha komplikace MeSH
- nemoci endokrinního systému * komplikace diagnóza MeSH
- obezita dětí a dospívajících * komplikace MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Předkládáme kazuistiku třítýdenního novorozence s těžkou dystrofií a hmotnostním nepro- spíváním v důsledku autoimunitní neonatální tyreotoxikózy. Kazuistikou chceme poukázat na důležitost rodinné anamnézy a vyšetřování aTSHR protilátek u gravidních žen po tyreoi- dektomii pro Graves-Basedowovu chorobu, protože pozitivita těchto protilátek predikuje vývoj hypertyreózy u plodu a novorozence. Časná diagnostika je klíčová pro včasné zahájení terapie a dobrou prognózu onemocnění.
We present a case report of a 3-week-old newborn with severe dystrophy and weight loss due to autoimmune neonatal thyrotoxicosis. We use this case report to point out the importance of family history and investigation of aTSHR antibodies in pregnant women after thyroidec- tomy for Graves-Basedow disease, because the positivity of these antibodies predicts the development of hyperthyroidism in the fetus and newborn. Early diagnosis is crucial for early initiation of therapy and a good prognosis of the disease.
