Successful kidney transplantation in a patient with neonatal-onset ILNEB.

Abstract:

BACKGROUND:ILNEB constitute an autosomal recessive disorder caused by homozygous or compound heterozygous mutation of the gene for the ITGA3. To date, 8 ILNEB patients have been reported, but all 6 neonatal-onset ILNEB patients suffered early death within 2 years. The most common cause of death among previously reported ILNEB patients was exacerbation of the respiratory condition. METHODS:In this study, we describe a case of ILNEB with neonatal onset in a female patient and the genetic and histopathological testing performed. RESULTS:Our patient had a compound heterozygous mutation in ITGA3. Compared to previously reported patients, this patient exhibited milder clinical and histopathological characteristics. After experiencing a life-threatening respiratory infection at 8 months old, the patient started periodic subcutaneous immunoglobulin treatment once every 1-2 weeks for nephrotic-range proteinuria-induced secondary hypogammaglobulinemia. At the age of 3 years, proteinuria gradually increased with severe edema despite strict internal management. Therefore, our patient underwent unilateral nephrectomy and insertion of a peritoneal dialysis catheter followed by another unilateral nephrectomy. One month later, she underwent an ABO-compatible living-donor kidney transplantation at the age of 4 years. CONCLUSIONS:Our patient is a neonatal-onset ILNEB patient who survived for more than 2 years and underwent successful kidney transplantation.

journal_name

Pediatr Transplant

authors

Okamoto T,Nakamura A,Hayashi A,Yamaguchi T,Ogawa Y,Natsuga K,Yanagi K,Hotta K

doi

10.1111/petr.13971

subject

Has Abstract

pub_date

2021-01-20 00:00:00

pages

e13971

eissn

1397-3142

issn

1399-3046

pub_type

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