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Ann Biol Clin (Paris). 2017 Aug 1;75(4):466-473. doi: 10.1684/abc.2017.1268.

Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease.

Author information

1
Department of pediatrics B, children's Hospital Bechir Hamza, Tunis, Tunisia, University of medicine, Tunis El Manar, Tunisia, Laboratory of biomedical genomics and oncogenetics LR11IPT05, University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
2
Biochemistry laboratory, Children's hospital, Research laboratory 'Haemoglobinopathies and Cystic fibrosis, LR00SP03', Tunis, Tunisia.
3
Department of pediatrics B, children's Hospital Bechir Hamza, Tunis, Tunisia, University of medicine, Tunis El Manar, Tunisia.
4
Laboratory of biomedical genomics and oncogenetics LR11IPT05, University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.

Abstract

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.

KEYWORDS:

5T; 711+1G>T; CFTR gene; M470V; child; cystic fibrosis; pseudo-Bartter syndrome

PMID:
28751295
DOI:
10.1684/abc.2017.1268
[Indexed for MEDLINE]

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