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L Szönyi

Publications and source records attributed to L Szönyi.

At least 19 recordsLinked to original sources
PubMed2004

Prevalence of alpha1-antitrypsin phenotypes in patients with IgA nephropathy.

BACKGROUND: alpha1-antitrypsin (AAT) is the main protease inhibitor in the blood. Several different AAT phenotypes exist. The most common variant is the MM phenotype, which is also associated with normal AAT levels. The less common phenotypes with Z and S variants are associated with low AAT levels. AAT deficiency is a risk factor for pulmonary emphysema, liver impairment and some immune-mediated diseases, some of which are also associated with IgA nephropathy (IgAN). In fact, liver impairment resulting from AAT deficiency may directly contribute to renal abnormalities resembling IgAN. PATIENTS AND METHODS: We investigated AAT phenotype and AAT levels in 100 IgAN patients who did not have end-stage liver disease. Fifteen patients in our sample had secondary IgAN. We also tested for the presence of renal deposition of AAT in patients heterozygous for AAT variants as well as in a randomly chosen group of patients with MM phenotype. We checked for any association between AAT phenotype and the progression of IgAN as well as the prevalence of diseases associated with IgAN (i.e. secondary IgAN). RESULTS: Twelve patients in our sample were heterozygous for AAT variants. Phenotypes were MZ in 5 patients, MS in 3, MF in 1, ML in 2 and ME in 1 patient. AAT levels were lower in these 12 patients than in those homozygous for the M variant (1.17+/-0.46 vs. 1.44+/-0.34 g/l, p < 0.05). We found renal deposition of AAT in 2 heterozygous patients and in 1 of the 12 patients which were randomly chosen. End-stage renal (ESRF) failure developed in 3 of the 12 heterozygous patients and in 6 of the 88 homozygous patients (p = 0.07) during the follow-up. The prevalence of heterozygosity was significantly higher in patients with secondary IgAN than in those with primary IgAN ((5/15 vs. 7/85; p < 0.02). CONCLUSIONS: AAT phenotype is not associated with the risk of primary IgA nephropathy, but might have an impact on disease outcome as well as on the risk of secondary IgAN.

Adolescent↗
PubMed2004

Cavernous transformation of the portal vein causing jaundice, presenting in the form of Wilson's disease.

The following is a case review of portal vein cavernous malformation presenting with intermittent cholestasis and jaundice in a 4 year old child. Correct assessment was supported by radiology, later laparoscopy, yet hindered by histopathology representative Wilson's disease and elevated urinary copper excretion. During surgical procedure the stenosis of the common bile duct secondary to extremely dilated portal vein reticulation was solved by Roux-en-Y choledochojejunostomy. After a one-year follow up the child remains asymptomatic.

Anastomosis, Roux-en-Y↗
PubMed2002

Short-term omeprazole treatment does not influence biochemical parameters of bone turnover in children.

Gastric proton pump inhibitors are widely used in the treatment of dyspeptic problems and for the eradication of H. pylori infection. Data are not available on whether omeprazole, a representative of proton pump inhibitors, influences the function of osteoclastic H+-pump in children. We studied the impact of short-term omeprazole administration on the biochemical parameters of bone turnover in pediatric patients. Urinary calcium excretion, serum total alkaline phosphatase activity, collagen type 1 crosslinked C-telopeptide, and osteocalcin levels were determined in 34 children [20 girls (9 prepubertal) and 14 boys (6 prepubertal)] before and after 2 weeks of omeprazole treatment at a dose of 20 mg/day. The measured parameters were within the healthy reference range in each patient. None of them altered during the study in any age or in any gender. We conclude that omeprazole, at a dose of 20 mg/day, does not significantly influence the investigated biochemical parameters of osteoclast and osteoblast function in pediatric patients.

Adolescent↗
PubMed1999

Dipeptidyl peptidase activity of CD26 in serum and urine as a marker of cholestasis: experimental and clinical evidence.

Dipeptidyl peptidase IV (CD26) is a membrane-associated enzyme that is expressed on the surface of T cells and on the hepatocyte brush border. In a soluble form it is present in serum. CD26 has been implicated in the regulation of T cell activation and in the metabolism of hormones and cytokines. Dipeptidyl peptidase (DPP) activity is elevated in the urine and serum of patients with biliary atresia (BA). To clarify the role of cholestasis in the development of increased serum and urinary DPP/CD26 activity, we studied the mechanism of activity increase in experimentally induced cholestasis of CD26-deficient and wild-type rats. The clinical utility of serum and urinary DPP/CD26 activity measurements was tested in adult and pediatric patients with hepatobiliary diseases and in liver transplant recipients. The results establish CD26-associated serum DPP activity as a novel, clinically useful marker of cholestasis and demonstrate that in contrast with alkaline phosphatase levels, DPP levels do not change in metastatic bone disease. Additionally, DPP activity is useful as a urinary test of cholestasis in infants who are not receiving nephrotoxic medication.

Alkaline Phosphatase↗
PubMed1998

Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.

Pearson syndrome is a multisystem juvenile condition associated with deletions in the mitochondrial genome. The most common 4977 bp deletion of mitochondrial DNA (mtDNA) can mainly be detected in the patients' peripheral blood. Here we report a child with a clinically unclarified diagnosis where molecular genetic results proved Pearson syndrome from stored dried blood sample 6 months after the patient's death. PCR amplification around the breakpoint of the most common mtDNA deletion could detect the presence of mutated mtDNA. Another polymerase chain reaction (PCR) assay indicated the low level of wild type mtDNA in patients' blood. We believe that this case shows the importance of storing Guthrie card and the availability of detection of Pearson syndrome from dried blood sample.

Anemia, Sideroblastic↗
PubMed1997

[Late onset type I tyrosinemia].

The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed. She has no singe of rachitis. Cirrhosis of the liver was proved by biopsy because of progressively rising gammaGT and alfa-fetoprotein levels. A new ensime-blocker (NTBC) treatment was started in an international collaboration. The authors compare the history of this case to that of others published in the literature. They summarize the pathomechanism of the disease.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

[Favorable effect of breast feeding and late introduction of cow's milk on the prevention of suspected allergic symptoms in infancy].

The authors studied in Káposztásmegyer belonging to the IVth district of Budapest the way of feeding and the frequency of skin, respiratory and gastrointestinal symptoms suggesting allergic disease in the first year of life of 405 infants born in 1993. It was analyzed whether the frequency of symptoms was related to the duration of breast feeding and the first introduction of cow's milk protein. In the 53 infants with symptoms the duration of breast feeding was significantly shorter (mean 12.5 weeks) than in the symptomless ones (20.2 weeks, p < 0.01). The first introduction of cow's milk was also significantly earlier in the infants with symptoms (mean 6.2 weeks) than in the healthy ones (11.8 weeks, p < 0.01). Cow's milk protein was more frequently introduced before the age of one months in infants with suspected cow's milk protein allergy (56%), than in the symptomless infants (34%, p < 0.01). It can be concluded that the shorter duration of breast feeding and the earlier exposure of cow's milk protein may increase the prevalence of allergic symptoms in infancy.

Age Factors↗
PubMed1995

[Simultaneous occurrence of ulcerative colitis and psoriasis in childhood].

Authors report of a 10 years old girl who at age 2 showed signs of psoriasis and after 8 years typical symptoms of ulcerative colitis manifested. In connection with this case the association of two diseases is emphasized which may be explained by the similarity of genetic and immunological factors in both disorder. It is accentuated that at the observation of enteral symptoms in patients with psoriasis the possibility of non specific inflammatory bowel disease has also to be considered.

Age Factors↗
PubMed1995

[Biliary calculi in infancy and childhood].

Authors analyse the data of 48 children with cholelithiasis (29 girls, 19 boys, mean age: 8,7 years). In the infants the gallstones developed mostly on the basis of predisposing disease and in them the spontaneous stone dissolution is frequent. Patients were divided into two groups. In the I. group gallstones developed at the presence of predisposing diseases, in the II. group such disease were not identified. In childhood more patients belong to the I. group as our results and earlier reports show, in this group characteristic symptoms cannot be found. In the II. group the vague abdominal pain was the most frequent symptom. Beyond the age of 10 years the sex ratio and the symptoms are similar to those of adults. In the I. group in 8 cases, while in the II. in 16 cases was operation done. In the latter group in two patient stone dissolution took place with Ursodeoxycholicacid. In childhood complication are infrequent. The ultrasound examination is a very useful tool in the diagnosis and follow up of these patients.

Age Factors↗
PubMed1992

[Studying the role of Helicobacter pylori infection in recurrent abdominal pain in children].

The authors studied the role of Helicobacter pylori at recurrent abdominal pain in childhood. Helicobacter pylori infection hasn't been found at the 42 examined children. The endoscopy showed esophagitis in 34 cases. The quick urease test, the histological examination, and the bacterial culture are proposed to carry out in ulcus duodeni, gastritis typ. B ulcus ventriculi and not necessary to carry out if the endoscopy shows only esophagitis--emphasize the authors.

Abdominal Pain↗
PubMed1991

[ A case of successfully treated duodenal hemangioma].

In some cases the radical removal of gastrointestinal hemangiomas involves an excessive risk or too extensive operation. Consequently some other solution has to be applied. At our patient with duodenum haemangioma the combination of angiographic embolism and endoscopic sclerotization was successfully employed.

Adolescent↗
PubMed1989

[Adult prognosis of infantile obstructive bronchitis].

The authors made a followup study of 0-36 months old patients admitted with the diagnosis of obstructive bronchitis to the Komárom City Hospital's Pediatric Department. Eighty eight patients were explored at the age of 23-26 years with the use of questionnaires. Four of these (4,54%) are still under active treatment because of bronchial asthma. This--taking into consideration the prevalence of adult asthma--shows the connection of these disease entities.

Adult↗