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.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Price includes VAT for USA
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
This is the net price. Taxes to be calculated in checkout.
Kim B, King BF, Vrtiska TJ, Irazabal MV, Torres VE, Harris PC (2016) Inherited renal cystic diseases. Abdom Radiol (NY) 41:1035–1051. https://doi.org/10.1007/s00261-016-0754-3
Cramer MT, Guay-Woodford LM (2015) Cystic kidney disease: a primer. Adv Chronic Kidney Dis 22:297–305. https://doi.org/10.1053/j.ackd.2015.04.001
Avni FE, Garel C, Cassart M, D’Haene N, Hall M, Riccabona M (2012) Imaging and classification of congenital cystic renal diseases. AJR Am J Roentgenol 198:1004–1013. https://doi.org/10.2214/AJR.11.8083
Gunay-Aygun M (2009) Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet 151C:296–306. https://doi.org/10.1002/ajmg.c.30225
Braun DA, Hildebrandt F (2016) Ciliopathies. Cold Spring Harb Perspect Biol. https://doi.org/10.1101/cshperspect.a028191
Mochizuki T, Makabe S, Aoyama Y, Kataoka H, Nitta K (2018) New insights into cystic kidney diseases. Contrib Nephrol 195:31–41. https://doi.org/10.1159/000486932
Deltas C, Papagregoriou G (2010) Cystic diseases of the kidney: molecular biology and genetics. Arch Pathol Lab Med 134:569–582. https://doi.org/10.1043/1543-2165-134.4.569
Habbig S, Liebau MC (2015) Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function. Mol Cell Pediatr 2:8. https://doi.org/10.1186/s40348-015-0019-1
Al-Hamed MH, Kurdi W, Alsahan N, Alabdullah Z, Abudraz R, Tulbah M, Alnemer M, Khan R, Al-Jurayb H, Alahmed A, Tahir AI, Khalil D, Edwards N, Al Abdulaziz B, Binhumaid FS, Majid S, Faquih T, El-Kalioby M, Abouelhoda M, Altassan N, Monies D, Meyer B, Sayer JA, Albaqumi M (2016) Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. J Med Genet 53:338–347. 3
Mitchison HM, Valente EM (2017) Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol 241:294–309. https://doi.org/10.1002/path.4843
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC, ESCAPE Study Group; GPN Study Group (2015) Rationale, design and objectives of ARegPKD, a European ARPKD registry study. BMC Nephrol 16:22. https://doi.org/10.1186/s12882-015-0002-z
Bergmann C (2015) ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr Nephrol 30:15–30. https://doi.org/10.1007/s00467-013-2706-2
Rizk D, Chapman AB (2003) Cystic and inherited kidney diseases. Am J Kidney Dis 42:1305–1317
Yoder BK (2007) Role of primary cilia in the pathogenesis of polycystic kidney disease. J Am Soc Nephrol 18:1381–1388. https://doi.org/10.1681/ASN.2006111215
Pei Y, Watnick T (2010) Diagnosis and screening of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis 17:140–152. https://doi.org/10.1053/j.ackd.2009.12.001
Gheissari A, Harandavar M, Hildebrandt F, Braun DA, Sedghi M, Parsi N, Merrikhi A, Madihi Y, Aghamohammadi F (2015) Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. Iran J Kidney Dis 9:119–125
Avni FE, Lahoche A, Langlois C, Garel C, Hall M, Vivier P-H (2015) Renal involvement in children with HNF1β mutation: early sonographic appearances and long-term follow-up. Eur Radiol 25:1479–1486. https://doi.org/10.1007/s00330-014-3550-x
Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanné-Chantelot C (2007) Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 18:923–933. https://doi.org/10.1681/ASN.2006091057
Gimpel C, Avni EF, Breysem L, Burgmaier K, Caroli A, Cetiner M, Haffner D, Hartung EA, Franke D, König J, Liebau MC, Mekahli D, Ong ACM, Pape L, Titieni A, Torra R, Winyard PJD, Schaefer F (2019) Imaging of kidney cysts and cystic kidney diseases in children: an international working group consensus statement. Radiology 290:769–782. https://doi.org/10.1148/radiol.2018181243
Wernecke K, Heckemann R, Bachmann H, Peters PE (1985) Sonography of infantile polycystic kidney disease. Urol Radiol 7:138–145
Garcelon N, Neuraz A, Benoit V, Salomon R, Burgun A (2017) Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse. J Am Med Inform Assoc 24:607–613. https://doi.org/10.1093/jamia/ocw144
Rosenbaum DM, Korngold E, Teele RL (1984) Sonographic assessment of renal length in normal children. AJR Am J Roentgenol 142:467–469. https://doi.org/10.2214/ajr.142.3.467
Baad M, Lu ZF, Reiser I, Paushter D (2017) Clinical significance of US Artefacts. Radiographics 37:1408–1423. https://doi.org/10.1148/rg.2017160175
Tchelepi H, Ralls PW (2009) Color comet-tail artefact: clinical applications. AJR Am J Roentgenol 192:11–18. https://doi.org/10.2214/AJR.07.3893
Ong ACM, Devuyst O, Knebelmann B, Walz G, ERA-EDTA Working Group for Inherited Kidney Diseases (2015) Autosomal dominant polycystic kidney disease: the changing face of clinical management. Lancet 385:1993–2002. https://doi.org/10.1016/S0140-6736(15)60907-2
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F (2019) International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol 15:713–726. https://doi.org/10.1038/s41581-019-0155-2
The Imagine data science platform was partially financed by The French National Research Agency, under the C’IL-LICO project (17-RHUS-0002).
Conflict of interest
The authors declare that they have no conflict of interest.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
About this article
Cite this article
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
- Renal Ciliopathies
- Cystic disease
- Molecular genetics