AUTHOR=Botero-Calderon Lorena , Lawrence Anne , O’Toole Natalie , Guay-Woodford Lisa M. 

TITLE=Fetal renal cystic disease and post-natal follow up—a single center experience

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1243504

DOI=10.3389/fped.2023.1243504

ISSN=2296-2360

ABSTRACT=<sec><title>Introduction</title><p>Prenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from <italic>in utero</italic> detection to post-natal nephrology management remains to be established.</p></sec><sec><title>Aim of the work</title><p>We sought to evaluate the presentation and transition planning for infants identified <italic>in utero</italic> with bilateral renal cystic disease.</p></sec><sec><title>Methods</title><p>Our retrospective observational study identified 72 pregnancies with bilateral renal cystic disease in a single center from 2012 to 2022; 13 of which had a confirmed renal ciliopathy disorder. Clinical and imaging data, genetic test results, and documentation of postnatal follow-up were collected and compared.</p></sec><sec><title>Results</title><p>In our suspected renal ciliopathy cohort (<italic>n</italic> = 17), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (<italic>n</italic> = 4), followed by Bardet-Biedl syndrome (BBS, <italic>n</italic> = 3), autosomal dominant polycystic disease (ADPKD, <italic>n</italic> = 2), <italic>HNF1B</italic>-related disease (<italic>n</italic> = 2), and Meckel-Gruber syndrome (MKS, <italic>n</italic> = 2). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (<italic>n</italic> = 3). Polydactyly (<italic>n</italic> = 3) was detected only in patients with BBS and MKS, cardiac defects (<italic>n</italic> = 6) were identified in fetuses with ARPKD (<italic>n</italic> = 3), MKS (<italic>n</italic> = 2), and BBS (<italic>n</italic> = 1), and abnormalities of the CNS (<italic>n</italic> = 5) were observed in patients with ARPKD (<italic>n</italic> = 1), MKS (<italic>n</italic> = 2), and BBS (<italic>n</italic> = 3). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (<italic>n</italic> = 11/13; 85%).</p></sec><sec><title>Conclusion</title><p>Prenatal sonographic detection of echogenic kidneys should raise suspicion for a broad range of disorders, including renal ciliopathies and CAKUT. Multicenter collaboration will be required to standardize the implementation of transition guidelines for comprehensive nephrology management of infants identified <italic>in utero</italic> with enlarged, echogenic kidneys.</p></sec>