Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-07-16

AUTHORS

Kiyokazu Tsuji, Mineaki Kitamura, Kumiko Muta, Yasushi Mochizuki, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Hideki Sakai, Hiroshi Mukae, Tomoya Nishino

ABSTRACT

BackgroundRenal hypouricemia (RHUC) is a genetic disorder caused by mutations in the SLC22A12 gene, which encodes the major uric acid (UA) transporter, URAT1. The clinical course of related, living donor-derived RHUC in patients undergoing kidney transplantation is poorly understood. Here, we report a case of kidney transplantation from a living relative who had an SLC22A12 mutation. After the transplantation, the recipient’s fractional excretion of UA (FEUA) decreased, and chimeric tubular epithelium was observed.Case presentationA 40-year-old man underwent kidney transplantation. His sister was the kidney donor. Three weeks after the transplantation, he had low serum-UA, 148.7 μmol/L, and elevated FEUA, 20.8% (normal: < 10%). The patient’s sister had low serum-UA (101.1 μmol/L) and high FEUA (15.8%) before transplant. Suspecting RHUC, we performed next-generation sequencing on a gene panel containing RHUC-associated genes. A heterozygous missense mutation in the SLC22A12 gene was detected in the donor, but not in the recipient. The recipient’s serum-UA level increased from 148.7 μmol/L to 231.9 μmol/L 3 months after transplantation and was 226.0 μmol/L 1 year after transplantation. His FEUA decreased from 20.8 to 11.7% 3 months after transplantation and was 12.4% 1 year after transplantation. Fluorescence in situ hybridization of allograft biopsies performed 3 months and 1 year after transplantation showed the presence of Y chromosomes in the tubular epithelial cells, suggesting the recipient’s elevated serum-UA levels were owing to a chimeric tubular epithelium.ConclusionsWe reported on a kidney transplant recipient that developed RHUC owing to his donor possessing a heterozygous mutation in the SLC22A12 (URAT1) gene. Despite this mutation, the clinical course was not problematic. Thus, the presence of donor-recipient chimerism in the tubular epithelium might positively affect the clinical course, at least in the short-term. More... »

PAGES

282

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12882-020-01940-4

DOI

http://dx.doi.org/10.1186/s12882-020-01940-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1129412437

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/32677916


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37 ConclusionsWe
38 FEUA
39 SLC22A12 gene
40 SLC22A12 mutations
41 UA
42 URAT1
43 Y chromosome
44 acid transporters
45 allograft biopsies
46 biopsy
47 case report
48 cases
49 cells
50 chimerism
51 chromosomes
52 clinical course
53 course
54 disorders
55 donor-recipient chimerism
56 donors
57 epithelial cells
58 epithelium
59 excretion
60 fluorescence
61 fractional excretion
62 gene panel
63 genes
64 genetic disorders
65 heterozygous missense mutation
66 heterozygous mutations
67 high FEUA
68 hybridization
69 hypouricemia
70 kidney
71 kidney donors
72 kidney transplant recipients
73 kidney transplantation
74 levels
75 living relatives
76 men
77 missense mutations
78 months
79 mutations
80 next-generation sequencing
81 panel
82 patient's sister
83 patients
84 presence
85 recipients
86 relatives
87 renal hypouricemia
88 report
89 sequencing
90 serum UA levels
91 sister
92 situ hybridization
93 transplant
94 transplant recipients
95 transplantation
96 transporters
97 tubular epithelial cells
98 tubular epithelium
99 uric acid transporters
100 weeks
101 years
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