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[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].
Pol Merkur Lekarski 2005; 18(104):205-9PM

Abstract

Cystic fibrosis is the most common autosomal recessive genetic defect of one gene CFTR, where a variety of mutations were revealed. Cystic fibrosis is a variable disease and to date the genotype-phenotype correlation is difficult to clarify. The aim of the study was to analyse retrospectively the genotype and phenotype of children with cystic fibrosis and to search the correlation between type of mutation in CFTR and clinical manifestation of the gastrointestinal tract.

MATERIAL AND METHODS

The study group comprised 52 patients. Molecular DNA analyses were performed in 43 cases. Statistical analysis was done by using Fisher test.

RESULTS

In 34 (79%) cases two mutations in the CFTR gene were identified. In this group 21 cases were identified as a homozygous for AF508 mutation, in single case other mutations were found. A mutation of one CFTR allel was revealed in 11 patients, cystic fibrosis was not confirmed by genetic test in 9 children. Mean age of diagnosis was 34 months. In 38 children (73%) pancreatic insufficiency in the course of disease was found. Exocrine insufficiency of pancreas was showed significant frequently in homozygous group. Liver dysfunction in 20 children (38.5%) was revealed. In this group 12 patients was identified as a homozygous for deltaF508 mutation. On the base of oral glucose tolerance test the diabetes mellitus and glucose intolerance was diagnosed in 4 cases with homozygous genotype. Seven patients died in the endstage of the illness, in two of them homozygous mutation deltaF508 was found, in next 5 patients genetic analysis was not performed.

CONCLUSIONS

The frequency and severity of clinical manifestation of the gastrointestinal tract correlates with deltaF508 mutation. Early genetic test and demonstration of molecular defect in CFTR gene confirms the clinical diagnosis of cystic fibrosis and improves a quality of life and prolongs survival time of cystic fibrosis patients.

Authors+Show Affiliations

Klinika Pediatrii, Gastroenterologii i Zywienia AM we Wrocławiu. gastrped@gastro.am.wroc.plNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

pol

PubMed ID

17877132

Citation

Iwańczak, Franciszek, et al. "[Genotype and Phenotype of Gastrointestinal Symptoms Analysis in Children With Cystic Fibrosis]." Polski Merkuriusz Lekarski : Organ Polskiego Towarzystwa Lekarskiego, vol. 18, no. 104, 2005, pp. 205-9.
Iwańczak F, Smigiel R, Stawarski A, et al. [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]. Pol Merkur Lekarski. 2005;18(104):205-9.
Iwańczak, F., Smigiel, R., Stawarski, A., Pawłowicz, J., Stembalska, A., Mowszet, K., & Sasiadek, M. (2005). [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]. Polski Merkuriusz Lekarski : Organ Polskiego Towarzystwa Lekarskiego, 18(104), pp. 205-9.
Iwańczak F, et al. [Genotype and Phenotype of Gastrointestinal Symptoms Analysis in Children With Cystic Fibrosis]. Pol Merkur Lekarski. 2005;18(104):205-9. PubMed PMID: 17877132.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]. AU - Iwańczak,Franciszek, AU - Smigiel,Robert, AU - Stawarski,Andrzej, AU - Pawłowicz,Janina, AU - Stembalska,Agnieszka, AU - Mowszet,Krystyna, AU - Sasiadek,Maria, PY - 2007/9/20/pubmed PY - 2007/12/14/medline PY - 2007/9/20/entrez SP - 205 EP - 9 JF - Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego JO - Pol. Merkur. Lekarski VL - 18 IS - 104 N2 - UNLABELLED: Cystic fibrosis is the most common autosomal recessive genetic defect of one gene CFTR, where a variety of mutations were revealed. Cystic fibrosis is a variable disease and to date the genotype-phenotype correlation is difficult to clarify. The aim of the study was to analyse retrospectively the genotype and phenotype of children with cystic fibrosis and to search the correlation between type of mutation in CFTR and clinical manifestation of the gastrointestinal tract. MATERIAL AND METHODS: The study group comprised 52 patients. Molecular DNA analyses were performed in 43 cases. Statistical analysis was done by using Fisher test. RESULTS: In 34 (79%) cases two mutations in the CFTR gene were identified. In this group 21 cases were identified as a homozygous for AF508 mutation, in single case other mutations were found. A mutation of one CFTR allel was revealed in 11 patients, cystic fibrosis was not confirmed by genetic test in 9 children. Mean age of diagnosis was 34 months. In 38 children (73%) pancreatic insufficiency in the course of disease was found. Exocrine insufficiency of pancreas was showed significant frequently in homozygous group. Liver dysfunction in 20 children (38.5%) was revealed. In this group 12 patients was identified as a homozygous for deltaF508 mutation. On the base of oral glucose tolerance test the diabetes mellitus and glucose intolerance was diagnosed in 4 cases with homozygous genotype. Seven patients died in the endstage of the illness, in two of them homozygous mutation deltaF508 was found, in next 5 patients genetic analysis was not performed. CONCLUSIONS: The frequency and severity of clinical manifestation of the gastrointestinal tract correlates with deltaF508 mutation. Early genetic test and demonstration of molecular defect in CFTR gene confirms the clinical diagnosis of cystic fibrosis and improves a quality of life and prolongs survival time of cystic fibrosis patients. SN - 1426-9686 UR - https://www.unboundmedicine.com/medline/citation/17877132/[Genotype_and_phenotype_of_gastrointestinal_symptoms_analysis_in_children_with_cystic_fibrosis]_ L2 - http://babysfirsttest.org/newborn-screening/conditions/cystic-fibrosis-cf DB - PRIME DP - Unbound Medicine ER -