Successful kidney transplantation in a patient with neonatal‐onset ILNEB

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.