Successful kidney transplantation in a patient with neonatal-onset ILNEB.
Pediatr Transplant
; 25(5): e13971, 2021 Aug.
Article
em En
| MEDLINE
| ID: mdl-33470490
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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Epidermólise Bolhosa Juncional
/
Transplante de Rim
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Doenças Pulmonares Intersticiais
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Síndrome Nefrótica
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Japão