Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.
Prenat Diagn
; 41(4): 465-477, 2021 03.
Article
em En
| MEDLINE
| ID: mdl-33337554
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Avaliação de Resultados em Cuidados de Saúde
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Teste Pré-Natal não Invasivo
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Rim
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Observational_studies
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Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
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Pregnancy
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article