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The “salt and pepper” pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases

Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.

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Funding

The Imagine data science platform was partially financed by The French National Research Agency, under the C’IL-LICO project (17-RHUS-0002).

Author information

Correspondence to Pauline Iorio.

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The authors declare that they have no conflict of interest.

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Electronic supplementary material

Online resource 1
figure8

Genetic data of all the children. ARPKD: Autosomal Recessive Polycystic Kidney Disease; HNF1B: Glomerulocystic Disease associated to HNF1B mutation; NPHP: Nephronophthisis (infantile Inf and juvenile Juv); ADPKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD); BBS: Bardet Biedl Syndrome; * = pair of siblings (PNG 5544 kb)

Online resource 2
figure9

Demographics (gender and median age), renal function and main ultrasound features of the children at first ultrasound and follow-up, when available. * = pair of siblings; m = male; f = female; na = non available data; US = ultrasound (PNG 5555 kb)

Online resource 3
figure10

Girl of 4 days with Autosomal Dominant Polycystic Kidney Disease. B-mode convex (a) and linear (b) probes. Normal-sized kidney, hyperechoic cortex (black star) compared to the liver (white star) and abnormal corticomedullary differentiation. Countless confluent millimetric cysts located in the cortex (arrowheads) (PNG 3379 kb)

Online resource 4
figure11

Boy of 13 years old with HNF1B mutation. B-mode convex (a) and linear (b) probes. Normal-sized kidney, isoechoic cortex and abnormal corticomedullary differentiation. One millimetric cyst, located in the cortex (arrowhead). (PNG 4357 kb)

Online resource 5
figure12

Girl of 6 days with infantile nephronophthisis. B-mode linear probe. Normal-sized kidney, hyperechoic cortex (black star) compared to the liver (white star) and absent corticomedullary differentiation. (PNG 10057 kb)

Online resource 6
figure13

Boy of 5 months with infantile nephronophthisis. B-mode linear probe. Normal-sized kidney, hyperechoic cortex and abnormal corticomedullary differentiation (PNG 4075 kb)

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Iorio, P., Heidet, L., Rutten, C. et al. The “salt and pepper” pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases. Pediatr Nephrol (2020). https://doi.org/10.1007/s00467-020-04480-z

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Keywords

  • Renal Ciliopathies
  • Cystic disease
  • Molecular genetics
  • Ultrasound