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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys
Author(s) -
Digby Elizabeth L.,
Liauw Jessica,
Dionne Janis,
Langlois Sylvie,
Nikkel Sarah M.
Publication year - 2021
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.5883
Subject(s) - etiology , medicine , pediatrics , renal function , autosomal dominant polycystic kidney disease , pathology , kidney
Objectives To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK). Methods We conducted a retrospective chart review of HEK in British Columbia (January 2013–December 2019) and literature review. Results We identified 20 cases of HEK without other anomalies (isolated) in our provincial cohort, one was lost to follow‐up. Eight had testable genetic etiologies (autosomal dominant polycystic kidney disease [ADPKD], autosomal recessive polycystic kidney disease [ARPKD], Bardet–Biedl syndrome [BBS], and HNF1B ‐related disorder). The remaining seven did not have an identifiable genetic etiology. Of cases without a genetic etiology with postnatal follow‐up ( n = 6) there were no abnormalities of blood pressure, creatinine/estimated glomerular filtration rate or urinalysis identified with follow‐up from 2–71 months. We report 11 cases with extrarenal anomalies (nonisolated), with outcomes and etiologies. We identified 224 reported cases of isolated HEK in the literature. A potentially testable genetic etiology was found in 128/224 (57.1%). The neonatal death rate in those with testable etiologies was 17/128 (13.3%) compared to 2/96 (2.1%) when testable etiologies were excluded. Conclusions Genetic etiologies (ARPKD, ADPKD, BBS, HNF1B ‐related disorder, Beckwith–Wiedemann syndrome, tubular dysgenesis, familial nephroblastoma, and cytogenetic abnormalities) account for approximately half of prenatally isolated HEK; once excluded there are few neonatal deaths and short‐term renal outcomes may be normal. There remains a paucity of knowledge about long‐term renal outcomes.