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- Title
Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.
- Authors
Sloane, Peter; Hunter, Janel Darcy; Lin, Jen-Jar; Chen, Ashton
- Abstract
Background: Nail-patella syndrome (NPS) is a rare autosomal dominant disorder caused by a mutation in LIM-homeodomain transcription factor 1-beta (LMX1B) and characterized by nail dystrophy, skeletal changes, glaucoma, and kidney disease with up to 30% of patients progressing to kidney failure. Autoimmune diseases, including thyroid disease, have been reported previously in patients with NPS. Case-diagnosis/treatment: We report the case of a pediatric patient with NPS with kidney failure, hypothyroidism, and type 1 diabetes mellitus. The patient's pedigree and identification of a kidney specific mutation in LMX1B was a result of whole exome sequencing. Clinical data was obtained from retrospective chart review and included the 1-year post-transplant follow-up period. At 15 years of age, our patient received a simultaneous kidney-pancreas transplantation, from a 3 HLA antigen mismatched deceased donor. The donor was CMV + , EBV − and our patient was CMV − , EBV − at time of transplant. Our patient maintained normal kidney function and euglycemia without insulin therapy at 1 year post-transplant. Conclusions: The patient's hypothyroidism, diabetes mellitus, and kidney failure may all be related to LMX1B mutation. Further study is needed to clarify the genetic link between these processes. Simultaneous kidney-pancreas transplantation can be used to successfully treat diabetes mellitus and kidney failure in a pediatric patient.
- Subjects
HYPOTHYROIDISM; GENETIC mutation; HLA-B27 antigen; KIDNEY transplantation; PANCREAS transplantation; TYPE 1 diabetes; TREATMENT effectiveness; NAIL-patella syndrome; CHILDREN
- Publication
Pediatric Nephrology, 2023, Vol 38, Issue 6, p1985
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-022-05817-6