Sequential Liver-Kidney Transplant for Cranioectodermal Dysplasia
- PMID: 40148735
- DOI: 10.1111/petr.70066
Sequential Liver-Kidney Transplant for Cranioectodermal Dysplasia
Abstract
Background: Cranioectodermal dysplasia (CED) is a rare ciliopathy that causes mortality through its impact on liver and kidney dysfunction. To date, there has only been a single report of a successful kidney-liver transplant in a pediatric patient with CED.
Case presentation: We present a pediatric patient who received a sequential liver-kidney transplant due to progressive organ dysfunction caused by CED. At the age of 7, the patient underwent a liver transplant, followed sequentially by a kidney transplant 5 years later. We provide a 3-year follow-up to the kidney transplantation.
Results: The liver transplant was complicated by a portal vein stricture causing portal hypertension, which required revision. The patient had no complications from the kidney transplant despite comorbidities related to the CED diagnosis, such as thrombocytopenia.
Conclusions: We discuss the viability of the sequential liver-kidney transplant for patients with CED and suggest that physicians consider this sequence if their patients with CED present with corresponding sequential organ failure.
Keywords: Sensenbrenner syndrome; cranioectodermal dysplasia; liver–kidney transplant; thrombocytopenia.
© 2025 Wiley Periodicals LLC.
References
-
- W. Tan, A. Lin, and K. Keppler‐Noreuil, “Cranioectodermal Dysplasia,” in GeneReviews®, ed. M. P. Adam, G. M. Mirzaa, R. A. Pagon, et al. (University of Washington, Seattle, 2013).
-
- A. E. Lin, A. Z. Traum, I. Sahai, et al., “Sensenbrenner Syndrome (Cranioectodermal dysplasia): Clinical and Molecular Analyses of 39 Patients Including Two New Patients,” American Journal of Medical Genetics. Part A 161A, no. 11 (2013): 2762–2776, https://doi.org/10.1002/ajmg.a.36265.
-
- J. Ryżko, J. Walczak‐Sztulpa, P. Czubkowski, et al., “Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal dysplasia),” Frontiers in Pediatrics 10 (2022): 834064, https://doi.org/10.3389/fped.2022.834064.
-
- M. Brndiarova, M. Mraz, Z. Kolkova, F. Cisarik, and P. Banovcin, “Sensenbrenner Syndrome Presenting With Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel‐Shaped Middle Phalanges in Two Siblings,” Molecular Syndromology 12, no. 4 (2021): 263–267, https://doi.org/10.1159/000515645.
-
- M. M. Oud, I. J. Lamers, and H. H. Arts, “Ciliopathies: Genetics in Pediatric Medicine,” Journal of Pediatric Genetics 6, no. 1 (2017): 18–29, https://doi.org/10.1055/s‐0036‐1593841.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
