The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
The Fetal Medicine Unit, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Prenat Diagn. 2019 Aug;39(9):693-700. doi: 10.1002/pd.5418. Epub 2019 Feb 20.
To delineate the etiology and outcome of prenatally diagnosed isolated bilateral hyperechogenic kidneys (IBHK).
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.
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.
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.
阐述产前诊断双侧孤立性强回声肾（IBHK）的病因和结局。
我们对 2000 年 1 月 1 日至 2015 年 1 月 1 日期间通过产前超声检查发现并随访的 IBHK 妊娠病例进行病因和结局评估，评估方法包括家族史、靶向 AR-PKD 和 AD-PKD DNA 分析以及根据肾脏大小和羊水体积进行微阵列分析。
在 52 例确诊病例中，有 34 例肾脏增大，16 例肾脏大小正常，2 例肾脏较小。7 例为 AD-PKD，6 例为遗传性疾病，1 例为 PKD1 基因新发致病变异。15 例为 AR-PKD，微阵列分析显示有 2 例遗传性发现：1 例来自无症状母亲的 17q12 缺失，包含 HNF1B/TCF2 基因；1 例来自健康父亲的 3p26.1 重复。其余 4 例中，3 例为双侧多囊性发育不良肾，1 例为单侧肾发育不全。
微阵列分析和 PKD1 和 PKHD1 的突变分析对 IBHK 的诊断调查以及对受影响和未来妊娠的管理具有重要意义。预后不良与羊水过少的大强回声肾有关。
