Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Jul;188(7):2242-2245.
doi: 10.1002/ajmg.a.62746. Epub 2022 Apr 1.

A unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies

Michelle Nguyen Keyser  1   2   3 , Maria Huang  2   3 , Kimberly Newton  2   3 , Nadine Benador  2   3 , Julia Beauchamp-Walters  2   3 , Lynne M Bird  2   3
Affiliations
Review

A unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies

Michelle Nguyen Keyser et al. Am J Med Genet A. 2022 Jul.

Abstract

Ciliopathies are a group of genetic disorders caused by ciliary dysfunction. Thirty-five distinct multi-organ phenotypes have been recognized, with 187 genes associated. We performed a literature review of pancreatic involvement in ciliopathies and found that pancreatic disease is an uncommon phenotype described in only a handful of these genetic disorders. We present a case report of a pediatric patient with WDR19-related ciliopathy whose degree of pancreatic disease exceeds what has previously been reported in the literature for WDR19-related ciliopathies. WDR19 is one member of the nephronophthisis (NPHP)-related ciliopathy gene family and encodes an intra-flagellar transport protein (IFT144). Our patient presented with restrictive and obstructive lung disease, short rib thoracic dysplasia, end-stage renal disease (ESRD), developmental delay, hepatic fibrosis, and severe recurrent pancreatitis. Whole-exome sequencing (GeneDx) showed two likely pathogenic WDR19 variants in trans (maternally inherited: c.742G > A, p.G248S; paternally inherited: c.617 T > C, p.L206P). Among WDR19-related ciliopathies, pancreatic involvement is rarely reported and there have been no cases of severe, recurrent pancreatitis. Through this case report and literature review we hope to emphasize that pancreatic involvement is a rare yet important clinical phenotype to recognize in ciliopathies, especially in WDR19-related ciliopathies.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

REFERENCES

    1. Aliotta, R., Zanoli, L., Lauretta, I., Giunta, R., Ferrario, S., Rastelli, S., Rapisarda, S., Rahbari, E., & Rapisarda, F. (2018). Pancreatitis is a silent killer in peritoneal dialysis with difficult diagnostic approach. Clinical Medicine Insights: CaseReports, 11, 1179547618765761. https://doi.org/10.1177/1179547618765761
    1. Badalov, N., Baradarian, R., Iswara, K., Li, J., Steinberg, W., & Tenner, S. (2007). Drug-induced acute pancreatitis: An evidence-based review. Clinical Gastroenterology and Hepatology: The Official Clinical Practice Journal of The American Gastroenterological Association, 5(6), 648-644. https://doi.org/10.1016/j.cgh.2006.11.023
    1. Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbø, M., Filhol, E., Bole-Feysot, C., Nitschké, P., Gilissen, C., Haugen, O. H., Sanders, J. S., Stolte-Dijkstra, I., Mans, D. A., Steenbergen, E. J., Hamel, B. C., Matignon, M., … Arts, H. H. (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics, 89(5), 634-643. https://doi.org/10.1016/j.ajhg.2011.10.001
    1. Fehrenbach, H., Decker, C., Eisenberger, T., Frank, V., Hampel, T., Walden, U., Amann, K. U., Krüger-Stollfuß, I., Bolz, H. J., Häffner, K., Pohl, M., & Bergmann, C. (2014). Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatric Nephrology (Berlin, Germany), 29(8), 1451-1456. https://doi.org/10.1007/s00467-014-2762-2
    1. Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., & GPN Study Group. (2013). Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Human Genetics, 132(8), 865-884. https://doi.org/10.1007/s00439-013-1297-0

Substances

LinkOut - more resources