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Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes
Author(s) -
Shuster Shirley,
Keunen Johannes,
Shan Patrick,
Watkins Nicholas,
Chong Karen,
Chitayat David
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5418
Subject(s) - etiology , renal agenesis , prenatal diagnosis , medicine , agenesis , amniotic fluid , asymptomatic , pathology , multicystic dysplastic kidney , hnf1b , fetus , pregnancy , kidney , gastroenterology , biology , surgery , genetics , gene , homeobox , gene expression
Objectives To delineate the etiology and outcome of prenatally diagnosed isolated bilateral hyperechogenic kidneys (IBHK). Study Design Pregnancies with IBHK on prenatal ultrasound identified and followed by us between January 1, 2000 and January 1, 2015 were evaluated regarding the etiology and outcome by evaluation of family history, targeted AR‐PKD and AD‐PKD DNA analysis, and microarray analysis, according to renal size and amniotic fluid volume. Results Of the 52 identified cases, there were 34 cases with enlarged kidneys, 16 with normal size kidneys, and two with small kidneys. There were seven cases with AD‐PKD, six inherited, and one with de novo causative variants in the PKD1 gene. Fifteen had AR‐PKD, and microarray analysis showed two inherited findings: one with 17q12 deletion including the HNF1B/TCF2 gene inherited from asymptomatic mother and a duplication at 3p26.1 inherited from a healthy father. Of the remaining four cases, three cases had bilateral multicystic dysplastic kidneys, and one had unilateral renal agenesis. Conclusion Microarray analysis and mutation analysis for PKD1 and PKHD1 have an important contribution to the diagnostic investigation of IBHK and to the management of affected and future pregnancies. Poor outcome was associated with large hyperechoic kidneys with oligohydramnios.