Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients.

Progressive familial intrahepatic is a heterogeneous group of rare autosomal recessive liver disorders. Neonatal onset is characteristic of the PFIC 1 and PFIC 2, which result from mutations in genes respectivelyATP8B1 and ABCB11. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described. They all had typical clinical and biological features. However, they all had newly reported mutations. The same mutation was found in the patients with PFIC2, which could facilitate the diagnosis in Tunisian patients suspected in the future. The patient diagnosed with PFIC1 had also a newly described mutation, with a probable phenotypic particularity that is congenital hypothyroidism. Advances are being made to establish a molecular diagnosis in neonatal onset cholestasis. Indeed, next generation sequencing gene panels (NGSGP) potentially decrease the need for invasive procedures in these patients, enable early initiation of treatment and adequate genetic counseling.

Urinary tract infection in the neonates: what radiologic investigations should we do?

INTRODUCTION: Urinary tract infection (UTI) is the most common bacterial infection in febrile newborns. The exact prevalence is difficult to determine. AIM: To determine if renal ultrasound is sufficient in newborns diagnosed with urinary tract infection (UTI) or if they require a routine voiding cystourethrogram. METHODS: Retrospective data analysis for infants admitted in the neonatal department in Mongi Slim Hospital in Tunis between January 2007 and December 2016 and diagnosed with UTI in the first month of life. RESULTS: 75 newborns were diagnosed with the first episode of UTI during their hospitalization. The median age was 15 days; there were 52 (70%) males. Fetal ultrasound data were available for 70 patients (90%), of whom 14 (20%) had abnormal findings. E.coli was the most common causative pathogen founding 62 patients (83%). Renal ultrasound was performed in all patients, of which 20 (27%) were reported as abnormal. VCUG results were available for 32 infants (43%), of which 11 (34%) were interpreted as abnormal; Eight of them (73%) demonstrated vesicoureteric reflux (VUR).Comparison of the patients with and without malformative uropathy in our study, concluded that there was no significant difference in age, gender, urine culture specimen and positivity of blood culture. However antenatal ultrasound abnormalities were predictive of vesicoureteric reflux and other renal abnormalities (p = 0.001). The sensitivity of renal ultrasound for detection of vesicoureteric reflux and other renal or ureteral abnormalities was 81.8 %, specificity was 81 %. The positive predictive value (VPP) was 69.2 % and the negative predictive value was 89.5 %. CONCLUSION: In infants presenting with UTI in the first month of life, conservative follow-up with renal ultrasound examination and early detection of recurrent UTI are sufficient.