| Autor: |
Verscaj, Courtney P., Velez‐Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J., Thorson, Willa, Tan, Wen‐Hann, Rodig, Nancy, Graham, John M., Peron, Angela, Quintero‐Rivera, Fabiola, Zackai, Elaine H., Thomas, Mary Ann, Stevens, Cathy A., Adam, Margaret P., Bird, Lynne M., Jones, Marilyn C., Matalon, Dena R. |
| Zdroj: |
Prenatal Diagnosis; Feb2024, Vol. 44 Issue 2, p237-246, 10p |
| Abstrakt: |
Objective: Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract (CAKUT), maturity onset diabetes of the young, type 5, and neurodevelopmental disorders. Structural and/or functional renal disease is the most common phenotypic feature, although the prenatal renal phenotypes and the postnatal correlates have not been well characterized. Method: We reviewed pre‐ and postnatal medical records of 26 cases with prenatally or postnatally identified 17q12/HNF1B microdeletions (by chromosomal microarray or targeted gene sequencing), obtained through a multicenter collaboration. We specifically evaluated 17 of these cases (65%) with reported prenatal renal ultrasound findings. Results: Heterogeneous prenatal renal phenotypes were noted, most commonly renal cysts (41%, n = 7/17) and echogenic kidneys (41%), although nonspecific dysplasia, enlarged kidneys, hydronephrosis, pelvic kidney with hydroureter, and lower urinary tract obstruction were also reported. Postnatally, most individuals developed renal cysts (73%, 11/15 live births), and there were no cases of end‐stage renal disease during childhood or the follow‐up period. Conclusion: Our findings demonstrate that copy number variant analysis to assess for 17q12 microdeletion should be considered for a variety of prenatally detected renal anomalies. It is important to distinguish 17q12 microdeletion from other etiologies of CAKUT as the prognosis for renal function and presence of associated findings are distinct and may influence pregnancy and postnatal management. Key points: What is already known about this topic? Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including renal abnormalities.Cystic renal changes, including cystic dysplasia, are the most commonly reported association postnatally. Hyperechogenic kidneys have been associated prenatally. What does this study add? This study broadens the spectrum of prenatal renal anomalies associated with 17q12 deletions.Despite prenatal onset of renal abnormalities, we demonstrate that individuals with 17q12 deletions displayed no progression to end‐stage renal disease during the postnatal follow‐up period. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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