Zanutto A, Chabot F, Martinet Y, Cannard L, Vignaud J-M, Polu J-M
Service des Maladies Respiratoires et Réanimation Respiratoire, Hôpital de Brabois, CHU de Nancy, rue du Morvan, Vandoeuvre-les-Nancy, France.
Rev Mal Respir. 2003 Sep;20(4):628-32.
Familial idiopathic interstitial pulmonary fibrosis is rare. In this case report the diagnosis was confirmed histologically in four members of the same family.
A woman whose father and two paternal uncles had developed pulmonary fibrosis was hospitalised from birth on account of delayed growth and dyspnoea. At the age of one year an increase in dyspnoea and the development of hypoxaemia and diffuse interstitial shadowing led to a surgical lung biopsy. The histological diagnosis was idiopathic interstitial fibrosis. Immunosuppressive treatment for one year led to clinical improvement with relief of the hypoxaemia but persistence of the interstitial shadowing. A pneumothorax at the age of 15 required pleurectomy. The clinical state remained stable with a restrictive ventilatory defect up to the age of 26 when respiratory insufficiency developed in the course of pregnancy. The outcome following delivery was severe respiratory failure complicated by pulmonary arterial hypertension leading to death the following year.
This case is distinguished by a histological diagnosis in four members of a family of whom one was an infant, the prolonged stabilisation after immunosuppressive therapy and the possible role of pregnancy in the progression.
家族性特发性间质性肺纤维化较为罕见。在本病例报告中，同一家庭的四名成员经组织学确诊为此病。
一名女性，其父亲和两位叔伯均患肺纤维化，她自出生起因生长发育迟缓及呼吸困难住院。一岁时，呼吸困难加重、出现低氧血症及弥漫性间质阴影，遂行外科肺活检。组织学诊断为特发性间质纤维化。免疫抑制治疗一年后临床症状改善，低氧血症缓解，但间质阴影仍存在。15岁时发生气胸，需行胸膜切除术。直至26岁，临床状态保持稳定，存在限制性通气功能障碍，孕期出现呼吸功能不全。分娩后出现严重呼吸衰竭并伴有肺动脉高压，次年死亡。
本病例的特点是同一家庭四名成员经组织学确诊，其中一名为婴儿，免疫抑制治疗后病情长期稳定，以及妊娠在病情进展中可能起到的作用。
