![]() The median age at diagnosis was 5 months with a median diagnosis delay of 3 months. In 12 departments, 123 CF children were collected. Data was recorded at diagnosis and during the follow-up from patients' medical records. To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization.Īll children with CF diagnosed by positive sweat tests between 19 in children's departments of Tunisian university hospitals were included. Altogether data show that V I/F+I/F/C is the most sensitive, reproducible, and robust predictive biomarker for CF diagnosis/prognosis effectively discriminating classical, atypical CF and non-CF groups. ![]() 55%) and lung function, measured by FEV 1 (27 vs. Correlations with clinical features showed that the best parameter corresponded to voltage measurements of the I/F + (I/F/CCH) response (V I/F+I/F/C ), with higher correlations vs. ![]() New parameters were analyzed and compared with the previous biomarker, i.e., the IBMX (I)/Forskolin (F)/Carbachol (C)-stimulated short-circuit current (I’ sc–I/F/C ). We analyzed measurements of CFTR-mediated Cl – secretion in rectal biopsies from 143 individuals (∼592 biopsies), the largest cohort so far analyzed by this approach. Here we aimed to evaluate different electrophysiological parameters from Ussing chamber analysis of rectal biopsies from people with CF (PwCF) to establish the one with highest correlations with clinical features as the best CF diagnosis/prognosis biomarker. Ex vivo analysis of fresh rectal biopsies by Ussing chamber has been the best discriminant biomarker for CF diagnosis/prognosis so far. However, people with atypical CF forms pose diagnosis dilemmas, requiring laboratory support for diagnosis confirmation/exclusion. Most cases of Cystic Fibrosis (CF) are diagnosed early in life. We hypotesized the possible causes of ST alteration in these conditions: in celiac disease it could be due to a transient dysregulation of the aquaporins, rapidly reversed by the diet in Klinefelter, it may be due to stable pubertal hypoandrogenism while, the PEG formulation itself contains salts that can temporarily alter ST. The test returned normal a few days after stopping treatment. Finally, a diagnosis of Klinefelter was made, but the ST normalized several years later.Ĭase 3 and 4: Two boys with stubborn constipation and fecal occlusion treated with Poly Ethylene Glycol (PEG) with salts showed pathological ST. During follow-up, he developed sensorineural hearing loss and an atrial septic defect was found. The child had more ST positives, but no CFTR mutations were found. After 2 weeks of gluten-free diet ST and fecal elastase normalized.Ĭase 2: 14 months old male suffering from bilateral renal dysplasia, episodes of metabolic alkalosis, recurrent respiratory infections and recurrent vomiting. Due to rapid clinical deterioration, celiac disease was suspected and diagnosed by laboratory tests and intestinal biopsy. Both ST and fecal elastase were altered although no CFTR gene mutations were found. We describe and discuss 4 cases due to different clinical conditions in which we recorded false positive ST, and the test remained altered for a period of varying length.Ĭase 1: Eight months old female child suffering from constipation, recurrent vomiting and failure to thrive, family history of recurrent pancreatitis without mutations in the PRSS1 and SPINK1 genes. However, false positives have been reported in patients with different diseases. The sweat chloride test (ST) is the gold standard for cystic fibrosis (CF) diagnosis in symptomatic patients, within the newborn screening and in the follow-up of CF patients during molecular therapies.
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