ESPE Abstracts

Background: Wolfram syndrome type 2 (WFS2) characterized by childhood GI ulcers/ bleeding, diabetes, and neurodegeneration with optic atrophy and hearing loss was recently elucidated as caused by CISD2/NAF-1 gene mutation. NAF-1 suppression in cells results in intra-mitochondrial accumulation of iron, increased ROS generation and consequently increased cellular apoptosis. So far only two mutations in four families were reported.Objective: Elucidate the c...

Background: Congenital diarrheal disorders (CDDs) are a large group of life-threatening genetic disorders that are frequently difficult to diagnose. We report four siblings from consanguineous kindred with persistent generalized malabsorptive diarrhea hypothyroidism, GH deficiency, intermittent diabetes insipidus, and monogenic obesity.Objective and hypotheses: To find the genetic etiology for the CDD in four cases from consanguineous family using homozy...

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...