[Genetic diffuse cystic lung disease in adults]. / Maladies kystiques pulmonaires de l'adulte d'origine génétique.

Multiple cystic lung diseases comprise a wide range of various diseases, some of them of genetic origin. Lymphangioleiomyomatosis (LAM) is a disease occurring almost exclusively in women, sporadically or in association with tuberous sclerosis complex (TSC). Patients with LAM present with lymphatic complications, renal angiomyolipomas and cystic lung disease responsible for spontaneous pneumothoraces and progressive respiratory insufficiency. TSC and LAM have been ascribed to mutations in TSC1 or TSC2 genes. Patients with TSC are variably affected by cutaneous, cognitive and neuropsychiatric manifestations, epilepsy, cerebral and renal tumors, usually of benign nature. Birt-Hogg-Dubé syndrome is caused by mutations in FLCN encoding folliculin. This syndrome includes lung cysts of basal predominance, cutaneous fibrofolliculomas and various renal tumors. The main complications are spontaneous pneumothoraces and renal tumors requiring systematic screening. The mammalian target of rapamycin (mTOR) pathway is involved in the pathophysiology of TSC, sporadic LAM and Birt-Hogg-Dubé syndrome. MTOR inhibitors are used in LAM and in TSC while Birt-Hogg-Dubé syndrome does not progress towards chronic respiratory failure. Future challenges in these often under-recognized diseases include the need to reduce the delay to diagnosis, and to develop potentially curative treatments. In France, physicians can seek help from the network of reference centers for the diagnosis and management of rare pulmonary diseases.

Sarcoidosis and the kidney: not only the granulomatous interstitial nephritis.

Renal involvement in sarcoidosis displays a wide range of manifestations, and kidney dysfunction may involve all three mechanisms of renal failure. We report a new case of systemic sarcoidosis presenting as a severe renal failure due to hypercalcemia, sarcoidosis-related bilateral nephrolithiasis and granulomatous interstitial nephritis. A prostate adenocarcinoma was also diagnosed, but has to be regarded as an unrelated disease.

Persistent airflow obstruction in asthma of patients with Churg-Strauss syndrome and long-term follow-up.

BACKGROUND: Little is known about the long-term outcome of airflow obstruction in asthma of patients with Churg-Strauss syndrome (CSS). METHODS: We conducted a retrospective study of 24 consecutive patients (aged 41.1 +/- 13.5 years) with CSS in a single center. All had asthma (starting 8.1 +/- 9.5 years prior to the diagnosis of CSS), blood eosinophilia (6.1 +/- 4.4 x 10(9)/l) and systemic manifestations of CSS. Antineutrophil cytoplasmic antibodies were found in 7 of 22 tested patients. Seven patients had smoked (a mean of 10 pack-years). All patients received oral corticosteroids, 11 cyclophosphamide and 23 inhaled corticosteroids. RESULTS: Airflow obstruction was found in 14 patients (70%) at diagnosis, and in 11 of 22 patients (50%) at the time of the clinical remission of CSS. The mean postbronchodilator FEV1/FVC and FEV1 were 69 +/- 12% and 74 +/- 21% of predicted at diagnosis (n = 20); 71 +/- 10% and 92 +/- 19% of predicted at the clinical remission (n = 22); and 64 +/- 13% and 80 +/- 21% at last visit (n = 13), respectively. During follow-up, postbronchodilator FEV1 increased by 30 +/- 28% in six patients with FEV1/FVC < 70% despite inhaled therapy who received higher dose of oral corticosteroids. At last visit, 5 of 13 patients (38%) with more than 3 years of follow-up had persistent airflow obstruction as defined by postbronchodilator FEV1/FVC < 70% and FEV1 < 80% of predicted. CONCLUSION: Airflow obstruction due to uncontrolled asthma is present despite corticosteroids in many patients at diagnosis and at clinical remission of CSS, and during follow-up. It may be still partly reversible with increased oral corticosteroid treatment.

[Spontaneous rupture of the esophagus or Boerhaave syndrome. Report of 3 cases and review of the literature]. / La rupture spontanée de l'oesophage ou syndrome de Boerhaave. A propos de trois cas et revue de la littérature.

A triad of signs constitutes Boerhaave syndrome: forceful vomiting, chest pain and subcutaneous emphysema. The syndrome results from spontaneous rupture of the oesophageal wall leading to an oeso-pleural or oeso-mediastinal fistula. Positive diagnosis is established with a water-soluble swallow, sometimes coupled with computed tomography of the thorax. Boerhaave syndrome is a surgical emergency. We report three cases of spontaneous rupture of the oesophagus and analyze the importance of emergency surgery as well as emergency treatment of the sepsis, an important prognosis factor.

[Traumatic pulmonary pseudocysts. Mechanisms of formation]. / Les pseudokystes pulmonaires traumatiques. Mécanismes de formation.

Pulmonary pseudocysts (PPC) classically relate to chest trauma. It is a rare entity in adults, with multiple differential diagnosis. PPC most often evolve favorably. The clinical diagnosis is difficult to assess due to the poor and non specific clinical data. Chest radiographs are usually unsufficient for the diagnosis and the imaging modality of choice is computed tomography (CT). CT patterns of PPC relate to single or numerous cavities surrounded by air space consolidations. The physiopathological mechanisms of PPC remains uncertain. The histological study of this reported case affords some worth data to highlight the pathogenesis of this acquired abnormality.

[Intensive care and respiratory sleep disorders]. / Réanimation et troubles respiratoires du sommeil.

The study of respiratory sleep disorders in intensive care is a developing field. Indeed sleep pathology concerns not only pneumologists and neurophysiologists but also numerous specialties including medicosurgical resuscitation. The advent of "portable" appliances should facilitate access to polysomnography (PSG) for diagnosis of sleep respiratory disorders (RDS) in the intensive care unit. This examination can be appropriate in two separate circumstances. RDS in life-threatening situations (generally respiratory and/or cardiac failure) or when RDS is worsened by the specific conditions of intensive care units: "intensive care-induced RDS". In both cases, easy diagnosis of RDS by PSG allows adjustment of the treatment (corrections of iatrogenic factors, continuous positive airway pressure [CPAP], noninvasive ventilation [NIV], oxygen [O2]. A specific treatment of the well documented RDS is most desirable, as the patients are considered to be at high risk for endotracheal intubation. If diagnosis of RDS is not made during the acute phase, the intensive care physician should be informed of the clinical and paraclinical elements leading to prescription of a delayed polysomnography in order to reduce the risk of further vital distress.