The 'salt and pepper' pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases
| Autor: | Nathalie Boddaert, Laurence Heidet, Caroline Rutten, Laureline Berteloot, Nicolas Garcelon, Rémi Salomon, Pauline Iorio, Marie-Pierre Audrézet, Vincent Morinière |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Nephrology medicine.medical_specialty Pathology Adolescent Databases Factual 030232 urology & nephrology Autosomal dominant polycystic kidney disease 030204 cardiovascular system & hematology Ciliopathies 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Ultrasonography Doppler Color Child Retrospective Studies Cystic kidney business.industry Infant Newborn Infant food and beverages Echogenicity Polycystic Kidney Autosomal Dominant medicine.disease Autosomal Recessive Polycystic Kidney Disease Ciliopathy Child Preschool Mutation Pediatrics Perinatology and Child Health Female Enlarged kidney business |
| Zdroj: | Pediatric Nephrology. 35:1033-1040 |
| ISSN: | 1432-198X 0931-041X |
| DOI: | 10.1007/s00467-020-04480-z |
| Popis: | While typical ultrasound patterns of ciliopathy-related cystic kidney diseases have been described in children, ultrasound findings can overlap between different diseases and atypical patterns exist. In this study, we assessed the presence of the “salt and pepper” pattern in different renal ciliopathies and looked for additional ultrasound features. This single-center, retrospective study included all patients with a molecular-proven diagnosis of renal ciliopathy, referred to our center between 2007 and 2017. Images from the first and follow-up ultrasound exams were reviewed. Basic ultrasound features were grouped into patterns and compared to genetic diagnoses. The “salt and pepper” aspect was described as enlarged kidneys with heterogeneous, increased parenchymal echogenicity. A total of 41 children with 5 different renal ciliopathies were included (61% male; median age, 6 years [range, 3 days to 17 years]). The “salt and pepper” pattern was present in 14/15 patients with an autosomal recessive polycystic kidney disease (ARPKD). A similar pattern was found in 1/4 patients with an autosomal dominant polycystic kidney disease and in 1/11 patients with HNF1B mutation. Additional signs found were areas of cortical sparing, comet-tail artifacts, and color comet-tail artifacts. Although the “salt and pepper” ultrasound pattern is predominantly found in ARPKD, it may be detected in other ciliopathies. The color comet-tail artifact is an interesting sign when suspecting a renal ciliopathy in case of enlarged hyperechoic kidneys with no detectable microcysts on B-mode grayscale ultrasound. |
| Databáze: | OpenAIRE |
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