Successful kidney transplantation in a patient with neonatal-onset ILNEB.
Pediatr Transplant
; 25(5): e13971, 2021 Aug.
Article
en 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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Epidermólisis Ampollosa de la Unión
/
Trasplante de Riñón
/
Enfermedades Pulmonares Intersticiales
/
Síndrome Nefrótico
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Pediatr Transplant
Asunto de la revista:
PEDIATRIA
/
TRANSPLANTE
Año:
2021
Tipo del documento:
Article
País de afiliación:
Japón