Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+GT/IVS8-5T mutation: a new face of an old disease
| Autor: | Taieb Messaoud, F. Khalsi, Faten Tinsa, Sondes Hadj Fredj, Sonia Abdelhak, Imen Bel Hadj, Khadija Boussetta |
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| Rok vydání: | 2017 |
| Předmět: |
Male
medicine.medical_specialty Cystic Fibrosis 030232 urology & nephrology Metabolic alkalosis Cystic Fibrosis Transmembrane Conductance Regulator Bartter syndrome medicine.disease_cause Cystic fibrosis Gastroenterology Diagnosis Differential 03 medical and health sciences Exon 0302 clinical medicine Internal medicine Genotype medicine Humans Allele Mutation Polymorphism Genetic business.industry Bartter Syndrome General Medicine medicine.disease Child Preschool business Complication 030217 neurology & neurosurgery |
| Zdroj: | Annales de biologie clinique. 75(4) |
| ISSN: | 1950-6112 |
| Popis: | Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the sole manifestation of cystic fibrosis in children is extremely rare and has never been described in patients carrying 5T variant. We report a clinical, biochemical and genetic study of a four year-old boy presenting a pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis. All 27 exons and the flanking intron regions of the CFTR gene were analysed by PCR and direct sequencing. Direct sequencing was also used to analyse TGmTn and M470V polymorphisms in the patient and his parents. Two sweat tests were abnormal with elevated chloride levels at 78 and 88 mmol/L. DNA sequencing revealed a heterozygous mutation 711+1 G>T and an IVS8-T5 allele. The mutation 711+1 G>T is in trans with the IVS8-T5-TG11 allele and the child carried M470/V470 genotype. To the best of our knowledge, the genotype 711+1 G>T /IVS8-5T found in our patient is described for the first time. The role of TG11-5T-V470 allele in cases of cystic fibrosis with PB syndrome remains to be determined. |
| Databáze: | OpenAIRE |
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