Dpt. of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Denmark.
Dpt. of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Eur J Med Genet. 2021 Nov;64(11):104335. doi: 10.1016/j.ejmg.2021.104335. Epub 2021 Sep 4.
Interstitial Lung disease, Nephrotic syndrome and Epidermolysis Bullosa, also referred to as ILNEB syndrome is an extremely rare autosomal recessive condition, caused by pathogenic variants in ITGA3. 11 patients have previously been diagnosed with ILNEB syndrome of whom 7 died in infancy or early childhood. We report the only patient with ILNEB syndrome who survived past adolescence, partly due to a double lung transplant. Additionally, our patient showed oral, nasal and gynecological symptoms not previously reported in patients with ILNEB syndrome.
间质性肺病、肾病综合征和大疱性表皮松解症，也称为 ILNEB 综合征，是一种极其罕见的常染色体隐性疾病，由 ITGA3 中的致病性变异引起。此前已有 11 名患者被诊断为 ILNEB 综合征，其中 7 名在婴儿期或幼儿期死亡。我们报告了唯一一名患有 ILNEB 综合征且存活至青春期后的患者，部分原因是接受了双肺移植。此外，我们的患者还表现出口腔、鼻腔和妇科症状，这些症状以前在 ILNEB 综合征患者中没有报道过。
