Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Hokkaido Renal Pathology Center, Sapporo, Japan.
Pediatr Transplant. 2021 Aug;25(5):e13971. doi: 10.1111/petr.13971. Epub 2021 Jan 20.
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.
In this study, we describe a case of ILNEB with neonatal onset in a female patient and the genetic and histopathological testing performed.
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.
Our patient is a neonatal-onset ILNEB patient who survived for more than 2 years and underwent successful kidney transplantation.
ILNEB 是一种常染色体隐性遗传病，由 ITGA3 基因的纯合或复合杂合突变引起。迄今为止，已有 8 例 ILNEB 患者被报道，但所有 6 例新生儿发病的 ILNEB 患者均在 2 年内早逝。此前报道的 ILNEB 患者死亡的最常见原因是呼吸状况恶化。
本研究描述了一例女性新生儿发病的 ILNEB 病例，并进行了基因和组织病理学检测。
我们的患者在 ITGA3 中存在复合杂合突变。与此前报道的患者相比，该患者表现出更轻微的临床和组织病理学特征。在 8 个月大时经历了一次危及生命的呼吸道感染后，该患者开始每 1-2 周接受一次周期性皮下免疫球蛋白治疗，以治疗肾病范围蛋白尿引起的继发性低丙种球蛋白血症。3 岁时，尽管进行了严格的内科治疗，蛋白尿仍逐渐增加并伴有严重水肿。因此，我们的患者接受了单侧肾切除术和腹膜透析导管插入术，随后又进行了另一次单侧肾切除术。一个月后，她在 4 岁时接受了 ABO 相容的活体供肾移植。
我们的患者是一名新生儿发病的 ILNEB 患者，存活时间超过 2 年，并成功接受了肾移植。
