MAGNETIC RESONANCE IMAGING AND KIDNEY BIOPSY FINDINGS FOR A 23-YEAR-OLD MAN WITH AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE (ADTKD)-REN

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Abstract Title *

MAGNETIC RESONANCE IMAGING AND KIDNEY BIOPSY FINDINGS FOR A 23-YEAR-OLD MAN WITH AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE (ADTKD)-REN

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Co-author 1

Makoto Fukuda makotennis@gmail.com Saga University Nephrology Saga Japan *

Co-author 2

Kohei Hashimoto frogman1.03@gmail.com Saga University Nephrology Saga Japan -

Co-author 3

Eriko Nonaka er.pn.g.pn.k@gmail.com Saga University Nephrology Saga Japan -

Co-author 4

Masatora Yamasaki yamasaki.03105@gmail.com Saga University Nephrology Saga Japan -

Co-author 5

Yoshifumi Ubara yoshifumiubara@gmail.com Tranomon Hospital Kajigaya Nephrology Kanagawa Japan -

Co-author 6

Maki Yoshihara st1320@cc.saga-u.ac.jp Saga University Nephrology Saga Japan -

Co-author 7

Motoaki Miyazono miyazono@edu.cc.saga-u.ac.jp Saga University Nephrology Saga Japan -

Co-author 8

Co-author 9

Co-author 10

Co-author 11

Co-author 12

Co-author 13

Co-author 14

Co-author 15

Introduction

Autosomal dominant tubulointerstitial kidney disease (ADTKD) involves gene mutations that lead to progressive kidney disease, with associated acidosis, hyperkalemia, anemia, and episodes of gout. A heterozygous pathogenic REN genetic variant is present in affected people. Fifty percent of the relatives of patients with ADTKD are also affected, and genetic testing is used to confirm the diagnosis.

Methods

We report a 23-year-old man with ADTKD and a heterozygous missense mutation variation of the REN gene. To our knowledge, this variant has not been reported previously. The patient had a family history of kidney disease and hyperuricemia, and he presented with decreased renal function.

Results

Magnetic resonance imaging indicated isointense signals in the renal cortices, indicating high water content, as with cysts. However, this finding differed from findings in other cystic renal diseases, which appear as high-intensity signals on T2-weighted magnetic resonance imaging. Renal biopsy in the present case revealed dilated cyst-like structures with fibrosis and positive staining for GATA binding protein 3, which indicated a uroepithelial origin.

Conclusion

We speculate that the water-containing tubular structures seen in this patient may be characteristic of ADTKD-REN.

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