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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.

Titel:	Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Autor/in / Beteiligte Person:	Verscaj, CP ; Velez-Bartolomei, F ; Bodle, E ; Chan, K ; Lyons, MJ ; Thorson, W ; Tan, WH ; Rodig, N ; Graham JM Jr ; Peron, A ; Quintero-Rivera, F ; Zackai, EH ; Thomas, MA ; Stevens, CA ; Adam, MP ; Bird, LM ; Jones, MC ; Matalon, DR
Link:	Full Text Finder (Volltext)
Zeitschrift:	Prenatal diagnosis, Jg. 44 (2024-02-01), Heft 2, S. 237-246
Veröffentlichung:	Chichester, [Sussex]; New York : Wiley, c1981-, 2024
Medientyp:	academicJournal
ISSN:	1097-0223 (electronic)
DOI:	10.1002/pd.6424
Schlagwort:	Pregnancy Female Humans Chromosome Deletion Kidney diagnostic imaging Kidney abnormalities Phenotype Hepatocyte Nuclear Factor 1-beta genetics Multicenter Studies as Topic Kidney Diseases congenital Kidney Diseases, Cystic diagnostic imaging Kidney Diseases, Cystic genetics Urogenital Abnormalities Vesico-Ureteral Reflux
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Review; Journal Article Language: English [Prenat Diagn] 2024 Feb; Vol. 44 (2), pp. 237-246. <i>Date of Electronic Publication: </i>2023 Aug 26. MeSH Terms: Kidney Diseases* / congenital ; Kidney Diseases, Cystic* / diagnostic imaging ; Kidney Diseases, Cystic* / genetics ; Urogenital Abnormalities* ; Vesico-Ureteral Reflux* ; Pregnancy ; Female ; Humans ; Chromosome Deletion ; Kidney / diagnostic imaging ; Kidney / abnormalities ; Phenotype ; Hepatocyte Nuclear Factor 1-beta / genetics ; Multicenter Studies as Topic References: Harambat J, Stralen KJ, Kim JJ, Tizard EJ. Epidemiology of chronic kidney disease in children. Pediatr Nephrol. 2012;27(3):363-373. https://doi.org/10.1007/s00467-011-1939-1. ; Chesnaye N, Bonthuis M, Schaefer F, et al. Demographics of paediatric renal replacement therapy in Europe: a report of the ESPN/ERA-EDTA registry. 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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.