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Published on: June 23, 2015
Fetal renal cystic disease and post-natal follow up-a single center experience
Lorena Botero-Calderon1, Anne Lawrence2, Natalie O'Toole3
1Division of Nephrology, Children's National Hospital, Washington, DC, United States.
Insights
Prenatal ultrasound findings of enlarged kidneys can signal various serious conditions, including renal ciliopathies. Transition planning for affected infants needs improvement, with most renal ciliopathy cases receiving postnatal nephrology care.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Prenatal Diagnosis
Background:
- Prenatal ultrasound detection of large, echogenic, or cystic kidneys suggests diverse disorders like renal ciliopathies and congenital anomalies of the kidney and urinary tract (CAKUT).
- Systematic transition planning from in utero detection to postnatal nephrology management for these infants is not well-established.
Purpose of the Study:
- To evaluate the clinical presentation of infants with in utero bilateral renal cystic disease.
- To assess the transition planning process for these infants.
Main Methods:
- Retrospective observational study of 72 pregnancies with bilateral renal cystic disease (2012-2022).
- Analysis of clinical and imaging data, genetic results, and postnatal follow-up for 13 infants with confirmed renal ciliopathy.
- Comparison of presentation and transition planning across different diagnoses.
Main Results:
- In the renal ciliopathy cohort (n=17), autosomal recessive polycystic disease (ARPKD) was most common (n=4), followed by Bardet-Biedl syndrome (BBS, n=3) and others.
- Associated anomalies included anhydramnios (ARPKD), polydactyly (BBS, MKS), cardiac defects (ARPKD, MKS, BBS), and CNS abnormalities (ARPKD, MKS, BBS).
- Transition planning documentation was incomplete; however, 85% (11/13) of infants with renal ciliopathies had postnatal nephrology management plans.
Conclusions:
- Prenatal sonographic findings of enlarged, echogenic kidneys warrant suspicion for renal ciliopathies and CAKUT.
- Standardized transition guidelines and multicenter collaboration are crucial for comprehensive nephrology management of affected infants.
Introduction:
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 in utero detection to post-natal nephrology management remains to be established.
Aim Of The Work:
We sought to evaluate the presentation and transition planning for infants identified in utero with bilateral renal cystic disease.
Methods:
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.
Results:
In our suspected renal ciliopathy cohort (n = 17), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (n = 4), followed by Bardet-Biedl syndrome (BBS, n = 3), autosomal dominant polycystic disease (ADPKD, n = 2), HNF1B-related disease (n = 2), and Meckel-Gruber syndrome (MKS, n = 2). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (n = 3). Polydactyly (n = 3) was detected only in patients with BBS and MKS, cardiac defects (n = 6) were identified in fetuses with ARPKD (n = 3), MKS (n = 2), and BBS (n = 1), and abnormalities of the CNS (n = 5) were observed in patients with ARPKD (n = 1), MKS (n = 2), and BBS (n = 3). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (n = 11/13; 85%).
Conclusion:
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 in utero with enlarged, echogenic kidneys.
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