[DISTENDED FETAL BLADDER].

INTRODUCTION: Distended fetal bladder, also known as fetal megacystis, usually points to lower urinary tract obstruction (LUTO) which is most commonly caused by posterior urethral valves (PUV) in the male fetus. We present a short case-series of fetal megacystis without oligohydramnion where primary vesicoureteral reflux (VUR) was the leading aetiology. These cases also displayed a high rate of kidney dysplasia with early-onset renal dysfunction. By contrast, late-onset diagnosis of isolated megacystis, i.e without significant renal parenchymal or upper urinary tract abnormalities, had a surprisingly benign postnatal course with spontaneous resolution after birth. Our case series also display the associated risk for extra-renal malformations and specifically neuro-cognitive developmental abnormalities which should be sought on genetic and imaging evaluation.

Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene.

BACKGROUND: HNF1B deletion/intragenic mutations are the most commonly identified genetic cause of congenital anomalies of the kidney and urinary tract (CAKUT) suggested by fetal ultrasound findings such as: parenchymal hyperechogenicity, overt cystic changes or gross morphological urinary system (UT) abnormalities. The postnatal evolution of these 17q12 deletions encompassing the HNF1B gene-associated findings has not been assessed in depth. METHODS: In this observational study, we present postnatal follow-up findings in 5 of 6 cases (one pregnancy was terminated on parental request) of fetal-onset cystic/hyperechogenic kidneys eventually diagnosed with 17q12 microdeletion encompassing the HNF1B gene between 2009 and 2017. RESULTS: Complete normalization of kidney parenchymal abnormalities and of depressed neonatal renal function was observed in 4/5 and 5/5 patients within 2-4.9 years and 1.5-8 months, respectively. All 5 patients had preserved normal renal function at 3-11 years of follow-up. The evolving later-onset renal features included: hypomagnesemia, hyperuricemia, urinary tract infection (UTI), and bilateral grade 3-4 vesicoureteral reflux and bladder diverticula in 3, 3, 2, and 1 patient, respectively. HNF1B gene deletion-associated extra-renal manifestations with delayed presentation were global developmental delay/autistic spectrum disorder (ASD), rolandic-type seizures, overweight, and borderline fasting hyperglycemia observed in 1-2 patients each. Family history was positive for small-size or asymptomatic cystic kidneys with normal function, diabetes mellitus, seizures, and mental/psychiatric problems in 3/6 cases. CONCLUSIONS: Fetal-onset HNF1B deletion-associated kidneys' parenchymal abnormalities confirmed postnatally with initially depressed renal function might undergo complete resolution within several years and few months, respectively. However, later-onset urinary tract, metabolic, and neurodevelopmental features of this mutation might appear over years. Therefore, genetic molecular evaluation/diagnosis and continuous follow-up for evolving features are mandatory in affected children.

The effect of gestational diabetes mellitus on human milk macronutrients content.

OBJECTIVE: To test the null hypothesis that human milk (HM) macronutrients (fat, lactose, protein) and caloric content in women with gestational diabetes mellitus (GDM) is similar to that of women without GDM. STUDY DESIGN: Sixty-two lactating mothers (31 GDM, 31 no-GDM) were studied after confirmation by 100-g oral glucose tolerance test. Each mother contributed three manually expressed HM samples (within 72 h after labor (colostrum), after 7 days (transitional) and at 14 days (mature)). Analysis was done by infrared transmission spectroscopy. RESULTS: Non-GDM and GDM groups did not differ by maternal age, pre-pregnancy weight, height, diet, pregnancy weight gain, gestational age, and infant birth weight. Macronutrients content in colostrum and transitional milk did not differ between groups. Fat and energy contents in mature HM were higher in non-GDM samples than in GDM samples (p = 0.07 and p < 0.02, respectively). CONCLUSION: Fat and energy content of mature HM obtained from mothers with GDM is lower compared to that of mature HM from mothers without GDM.