Celiac disease

Celiac disease is a multysystemic autoimmune disease induced by gluten in wheat, barley and rye. It is characterized by polygenic predisposition, high prevalence (1%), widely heterogeneous expression and frequent association with other autoimmune diseases, selective deficit of IgA and Down, Turner and Williams syndrome. The basis of the disease and the key finding in its diagnostics is symptomatic or asymptomatic inflammation of the small intestinal mucosa which resolves by gluten-free diet. Therefore, the basis of the treatment involves elimination diet, so that the disorder, if timely recognized and adequately treated, also characterizes excellent prognosis

Change of bronchial hyperresponsiveness in asthmatic children

Introduction. Bronchial hyperresponsiveness (BHR) is a factor in predicting bronchial asthma independently of inflammation markers. Objective. The aims were to determine the frequency and important predictive facts of BHR and the effect of prophylaxis by Global Initiative for Asthma (GINA) and National Asthma Education and Prevention Program (NAEPP) on BHR in asthmatic children. Methods. BHR in 106 children was evaluated by the bronchoprovocation test with methacholine. Results. The prevalence rate of symptomatic BHR is 18% for crucial point of PC20=4.1±3.03 mg/ml and PD20=3.22±2.59 μmol methacholine. On average asthmatic children express moderate BHR, which persists even two years after administering prophylaxis. After two years bronchial reactivity is significantly smaller, the change of FEV1 is significantly smaller, the velocity of change of slope dose response curve (sDRC) is faster and the provocative concentration of methacholine that causes wheezing is 2-3 times lower. A mild sDRC shows milder bronchoconstriction after two years. The fast change of bronchial reactivity in 41% of asthmatic children is contributed to aero-pollution with sulfur dioxide and/ or, possible insufficient and/or inadequate treatment during two years of administering prophylaxis. A simultaneous effect of allergens from home environment and grass and tree pollens and of excessive aero-pollution on children’s airways is important in the onset of symptomatic BHR. After two years of treatment by GINA and NAEPP children do not show asthma symptoms or show mild asthma symptoms, however bronchial sensitivity remains unchanged. Conclusion. Optimal duration of anti-inflammatory treatment in asthmatic children who show moderate bronchial hyperresponsiveness should be longer than two years

Pseudoachondroplasia: A case report

Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected parents. Case Outline. A 6.5-year-old girl presented with short-limbed dwarfism (body height 79.5 cm, <P5; -32%) and normal craniofacial appearance and intelligence. The girl was normal until 3 months of age when she expressed growth retardation with apparently shorter extremities in relation to the torso. With age, her rhizomelic dwarfism became increasingly visible, and since completed 15 months of age, when she started to walk, the disease was complicated with genu varum, lumbar lordosis and abnormal gait. Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses, small and irregular epiphyses and poorly formed acetabulum. Conclusion. PSACH is an achondroplasia-like rhizomelic dwarfism recognized by the absence of abnormality at birth, normal craniofacial appearance, characteristic epiphyseal and metaphyseal radiographic finding and joint hyperlaxity

Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G gt A

We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G gt A mutation (legacy name 1525-1G gt A)

Acute diarrhea in children

© 2015, Serbia Medical Society. All rights reserved. Acute diarrhea (AD) is the most frequent gastroenterological disorder, and the main cause of dehydration in childhood. It is manifested by a sudden occurrence of three or more watery or loose stools per day lasting for seven to 10 days, 14 days at most. It mainly occurs in children until five years of age and particularly in neonates in the second half-year and children until the age of three years. Its primary causes are gastrointestinal infections, viral and bacterial, and more rarely alimentary intoxications and other factors. As dehydration and negative nutritive balance are the main complications of AD, it is clear that the compensation of lost body fluids and adequate diet form the basis of the child’s treatment. Other therapeutic measures, except antipyretics in high febrility, antiparasitic drugs for intestinal lambliasis, anti-amebiasis and probiotics are rarely necessary. This primarily regards uncritical use of antibiotics and intestinal antiseptics in the therapy of bacterial diarrhea. The use of antiemetics, antidiarrhetics and spasmolytics is unnecessary and potentially risky, so that it is not recommended for children with AD

Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G gt A

We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G gt A mutation (legacy name 1525-1G gt A)

HLA genotyping in pediatric celiac disease patients

Celiac disease (CD) is a chronic inflammatory disease in the small intestine triggered by gluten uptake that occurs in genetically susceptible individuals. HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 9o-95% of CD patients. All of the remaining patients carry HLA-DQ8 protein encoded by HLA-DQA1*03 and DQB1*03:02 alleles. Specific HLA-DQ genotypes define different risk for CD incidence. Presence of susceptible HLA-DQ genotypes does not predict certain disease development, but their absence makes CD very unlikely, close to 100%. Here we presented for the first time the distribution of HLA-DQ genotypes in the group of pediatric celiac patients from the University Children's Hospital, Belgrade, Serbia and estimated risk for CD development that these genotypes confer. Seventy three celiac disease patients and 62 healthy individuals underwent genotyping for DQA1, DQB1 alleles and DRB1 allele. 94.5% of patients carried alleles that encode DQ2 protein variant and 2.7% carried alleles that encode DQ8 protein variant. Two patients carried single DQB1 *02 allele. No patients were negative for all the alleles predisposing to CD. The highest HLA-DQ genotype risk for CD development was found in group of patients homozygous for DQ2.5 haplotype, followed by the group of heterozygous carriers of DQ2.5 haplotype in combination with DQB1*02 allele within the other haplotype. The lowest risk was observed in carriers of a single copy of DQB1*02 or DQA1*05 allele or other non-predisposing alleles. HLA genotyping, more informative than serological testing commonly used, proved to be a useful diagnostic tool for excluding CD development

Nedostatak alfa-1 antitripsina kod dece - kliničke odlike i dijagnostika

Introduction Alpha-1-antitrypsin deficiency (AATD) is a relatively rare and clinically very heterogeneous autosomal recessive disorder. Objective Presentation of clinical characteristics of AATD in the first months after birth, as well as the significance of testing brothers and sisters for its presence. Methods Objectives of the study were analyzed on a sample of eight children (four male and four female, aged 63 months (mean14.81±23.96 months; range 1-63 months) with AATD confirmed based on its low serum value and pathological phenotype. Results Of the total of eight patients, six manifested cholestasis syndrome (three male and three female, mean age 2.25±1.37 months; range 1-4.5 months), while two patients, a 3.5-year-old girl and a 5.25-year-old boy, were without symptoms and clinical-laboratory signs of the disease, disclosed during family testing. Serum alpha-1-antitrypsin level rated 0.30-0.66 g/L (0.37±0.12), among which seven were with ZZ phenotype 0.30-0.39 (0.33±0.04), and in a boy with FZ the phenotype was disclosed on family screening, 0.66 g/L. In the group of patients with cholestasis syndrome (serum GTT 444.80±203.15 U/L; range 201-676 U/L), three had mild to moderate hepatomegaly, one had longitudinal growth delay ( lt P3; -10.50%) and two had icterus with conjugated hyperbilirubinemia (92 and 109 μmol/L) and prolonged prothrombin time (PT 14.8 and 17 sec). All children with cholestasis syndrome also had hypertransaminasemia (ALT 80.83±33 U/L; range 37-124 U/L and AST 116.67±62.82 U/L; range 58-230 U/L). Conclusion Cholestasis syndrome represents a basic manifestation of AATD in the first months after birth, while early testing of brothers and sisters enables early disclosure and adequate treatment of the subclinical forms of the disease.Uvod Nedostatak alfa-1 antitripsina (AATD) je relativno redak i klinički veoma heterogen autozomno recesivni poremećaj. Cilj rada Cilj rada je bio da se prikažu kliničke odlike AATD u prvim mesecima po rođenju, kao i značaj testiranja braće i sestara na ovaj poremećaj. Metode rada Ispitano je osmoro dece (četiri dečaka i četiri devojčice) uzrasta od mesec dana do 63 meseca (prosečno 14,81±23,96 meseci) sa AATD, koji je dokazan na osnovu niske vrednosti alfa- 1 antitripsina u serumu i patološkog fenotipa. Rezultati Kod šestoro dece (tri dečaka i tri devojčice) uzrasta od mesec dana do četiri i po meseca (prosečno 2,25±1,37 meseci) ispoljio se holestazni sindrom, dok su dva deteta (troipogodišnja devojčica i dečak uzrasta od 5,25 godina) bila bez simptoma i kliničko- laboratorijskih znakova AATD, ali je bolest otkrivena u sklopu porodičnog testiranja. Nivo alfa- 1 antitripsina u serumu bio je 0,30-0,66 g/l (prosečno 0,37±0,12 g/l), pri čemu kod sedmoro dece sa ZZ fenotipom 0,30-0,39 g/l (prosečno 0,33±0,04 g/l), a kod dečaka sa FZ fenotipom, otkrivenog porodičnim skriningom, 0,66 g/l. U grupi bolesnika sa holestaznim sindromom (nivo GGT u serumu bio je u proseku 444,80±203,15 IU/l; raspon 201-676 IU/l), kod tri deteta je utvrđena blaga do umerena hepatomegalija, kod jednog deteta je uočen zastoj u longitudinalnom rastu ( lt P3; -10,50%), dok je kod dvoje dece zabeležen ikterus sa konjugovanom hiperbilirubinemijom (92 i 109 μmol/l) i produženim parcijalnim vremenom (14,8 i 17 s). Kod sve dece s holestaznim sindromom utvrđena je i hipertransaminazemija s vrednostima ALT 80,83±33 IU/l (raspon 37-124 IU/l) i AST 116,67±62,82 IU/l (raspon 58-230 IU/l). Zaključak Holestazni sindrom je osnovna manifestacija AATD u prvim mesecima po rođenju deteta, dok testiranje braće i sestara obolelih omogućava rano otkrivanje i odgovarajuće lečenje supkliničkih oblika bolesti

Case Report of Acute Vitamin D Intoxication in an Infant

© 2014, Serbia Medical Society. All rights reserved. Introduction Vitamin D intoxication represents a rare and potentially serious pathological condition caused by the excess of calcium and phosphorus. We are presenting an infant with vitamin D intoxication due to excessive daily administration, as well as therapeutic procedures that prevented its adverse effects. Case Outline A 1.5-month-old female infant, born at term, exclusively breastfed and without any complaints and abnormalities of physical findings, was observed due to the data that during the preceding month, by her mother's mistake, she had received about 200,000 IU of vitamin D3. Laboratory analyses showed a high serum level of 25(OH)D (>400 nmol/L) and calcium (2.72 mmol/L), lowered PTH (6.6 pg/ml) and high urinary calcium/creatinine ratio (1.6), while other findings, including urotract ultrasonography image, were within normal limits. Treatment based on the discontinuation of vitamin D administration, infant's forced water intake, as well as the application of 2-month prednisolone and 4-month pheno-barbitone and furosemide, resulted in complete normalization of the laboratory indicators of vitamin D overdose, as well as the prevention of its adverse effects.Conclusion By timely recognition and adequate treatment, including triple therapy with prednisolone, phenobarbitone and furosemide, adverse effects of acute vitamin D intoxication can be prevente