ESPN 51th Annual Meeting

ESPN 2018

Prenatal renal hyperechogenicity, HNF-1b mutation and early renal failure.
Annamaria Pagano 1 Maria Teresa Saravo 1 Pasquale Fabio Barra 1 Ilaria Luongo 1 Carmine Pecoraro 1


Hepatocyte nuclear factor 1b (HNF1b), encoded by TCF2, is essential factor for embryogenesis in kidney, pancreas, liver and genitourinary tract.TCF2 mutations, known to be responsible for maturity-onset diabetes of the young 5 (MODY 5), have been also recognized to cause renal involvement with various phenotypes including cysts, hypoplasia or single kidney and prenatal hyperechogenicity. The clinical course of renal disease is heterogeneous and some forms cause early renal failure.

Material and methods:

We describes a clinical case of prenatal renal hyperechogenicity and TCF2 mutation identify by Next Generation Sequencing (NGS) on amniotic fluid.


During second trimester, prenatal ultrasound (US) discovered bilateral enlarged (+2SD) and hyperechogenic kidneys in a female foetus, with no sign of urinary tract obstructions and normal amniotic fluid volume.NGS performed on amniotic fluid identified c344+2T>C de novo mutation in the TCF2 gene.The patient was born after 37 weeks uneventful pregnancy with a birth weigh of 2370 g .On the 3rd day of life, blood examinations showed renal dysfunction with 3,9 mg/dl creatinine,47 mg/dl BUN,7,5 mmol/L potassium,10 mg/dl uricemia and severe dehydration and weigh loss were detected during clinical observation. Normal saline administration was followed by serum creatinine reduction to 2,5 mg/dl.Abdominal US confirms bilateral renal hyper echogenicity and enlargement (+1,7SD) and discloses sub-capsular small cysts in both kidneys, but no genital or urinary tract anomalies are detailed. Blood pressure monitoring was normal, continuous glucose monitoring show hyperglycaemia during 2% of registration while fecal elastase and liver enzyme remain normal.The baby has been receiving conservative treatment, however she is gaining weight slowly and renal function is deteriorating.


TCF2 abnomalities are reported to be the main cause of antenatal hyperechogenic kidneys.Renal phenotype and postnatal evolution are extremely variable and an early renal failure has been described just in 2 cases.Therefore, prenatal counseling as multidisciplinary follow-up is needed to check progressive renal involvement.