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Kidney Week

Abstract: PO1626

A Case of De Novo X-Linked Alport Syndrome Treated by Kidney Transplantation from the Patient’s Healthy Mother

Session Information

Category: Trainee Case Report

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Hane, Atsuya, Mie Daigaku Daigakuin Igakukei Kenkyuka Igakubu, Tsu, Mie, Japan
  • Fujimoto, Mika, Mie Daigaku Daigakuin Igakukei Kenkyuka Igakubu, Tsu, Mie, Japan
  • Saiki, Ryosuke, Mie Daigaku Daigakuin Igakukei Kenkyuka Igakubu, Tsu, Mie, Japan
  • Oda, Keiko, Mie Daigaku Daigakuin Igakukei Kenkyuka Igakubu, Tsu, Mie, Japan
  • Hirabayashi, Yosuke, Mie Daigaku Daigakuin Igakukei Kenkyuka Igakubu, Tsu, Mie, Japan
  • Haruki, Ayumi, Mie Daigaku Daigakuin Igakukei Kenkyuka Igakubu, Tsu, Mie, Japan
  • Murata, Tomohiro, Mie Daigaku Daigakuin Igakukei Kenkyuka Igakubu, Tsu, Mie, Japan
  • Katayama, Kan, Mie Daigaku Daigakuin Igakukei Kenkyuka Igakubu, Tsu, Mie, Japan
Introduction

X-linked Alport syndrome is a hereditary nephritis that leads to end-stage kidney failure by 40 years of age in most affected males. Although kidney transplantation is well tolerated in X-linked Alport syndrome, donors should be carefully selected since the proband’s mother is usually the gene carrier.

Case Description

The patient was a 38-year-old man. Microhematuria had been pointed out during his early childhood and had been diagnosed with Alport syndrome based on the results of a kidney biopsy at five years of age. He developed bilateral sensory deafness at 20 years of age and started hemodialysis due to end-stage kidney failure at 28 years of age. Although an X-linked mode of inheritance was suspected, none of the patient’s relatives, including his mother, had kidney disease. Since his mother had normal urinalysis results, living kidney transplantation from his mother was performed when he was 34 years of age. A genetic diagnosis at a later date revealed a splicing variant at c.3107-2A>G in COL4A5 of the patient. However, there was no apparent genetic mutation in COL4A5 of his mother, suggesting that the patient had a de novomutation. The kidney function of both the patient and his mother was stable at 4 years after kidney transplantation.

Discussion

For transplantation in cases of hereditary nephritis, it is preferable to avoid transplantation from an affected individual or the gene carrier. The kidney prognosis of female X-linked gene carriers is reported to be worse than expected. Although there was no genetic mutation in the donor in the present family case, if an X-linked form is suspected, a genetic diagnosis of the donor candidate should be performed before kidney transplantation is considered.