[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.

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.

Tuberous sclerosis is an autosomal dominant disorder almost fully penetrant with highly variable expression. Most cases are de novo and this diagnosis is sometimes considered during prenatal life in case of cardiac tumor, unique or multiple. The couple should be referred to a specialized tertiary prenatal care center for expertise and information. Fetal molecular testing of the two genes TSC1 and TSC2 is often informative. Prognosis determination for Tuberous Sclerosis remains a difficult task. Cardiac tumors can be sometimes worrying but only a minority will have a pejorative issue and most cases are asymptomatic without any therapeutic intervention needed. Only few cases need surgical or medical treatment. Patients with Tuberous Sclerosis can develop skin, eye, kidney or lung lesions later on, but they are either of limited consequence or treatable. The crux of the matter is the neurological involvement with frequent intellectual deficiency and epilepsy that can be drug-resistant. The absence of lesion on fetal brain MRI is not predictive of any prognosis and does not rule out Tuberous Sclerosis. De novo TSC2 mutation is a negative prognosis factor and conversely, an inherited TSC1 mutation is a more favorable one, but with a severe issue still possible. Facing this cautious prognosis, some couple may opt for termination of pregnancy while others decide to pursue it. It is then fundamental to set cardiac and neurological regular follow-up for these newborns. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Lactate: prognostic biomarker in severely burned patients.

Plasma lactate (PL) has been used as a marker of cellular hypoxia and shock. The correlation between PL and clinical outcome has been well accepted in hemorrhagic and septic shock. In contrast to the existing evidence, there are no or almost no data dealing with lactate and burn-related outcome. We attempted to assess whether early plasma lactate (PL) is a useful parameter to predict outcome in burned patients. A prospective study was conducted in a 20-bed adult burn ICU at a university-affiliated teaching hospital in Tunis. Patients admitted within the first 24h post burn with greater than 10% total body surface area (TBSA) burned were enrolled in the study. There were 60 males and 20 females. Mean age was 40.7 ± 19.5 years old, and average TBSA was 32 ± 21%. At admission, 86.7% patients had an initial lactate value of more than 2 mmol/L. In our study, an initial lactate value of 4 mmol/L provided the best sensitivity and specificity: 88% and 79% respectively for predicting sepsis, with an area under the ROC curve of 0,82. Furthermore, plasma lactate cut-off value for mortality prediction was 4.46 mmol/l with a good sensitivity (86%) and specificity (92%). Mortality rate was 36.25%. Plasma lactate appears to be a powerful predictor biomarker of sepsis and mortality in burn patients.

Le lactate plasmatique (LP) est utilisé comme marqueur de choc et d'hypoxie cellulaire. La corrélation entre LP et pronostic est validée dans les chocs hémorragique et septique. Il n'y a que peu voire pas de données concernant PL et pronostic chez les brûlés. Nous avons étudié si la mesure précoce de PL avait une valeur pronostique chez les brûlés. Une étude prospective a ainsi été menée dans l'unité de réanimation pour adultes brûlés (20 lits) du CHU de Tunis. Les patients (60 hommes et 20 femmes) admis dans les 24 h d'une brûlure touchant plus de 10% de SCT ont été inclus. L'âge était de 40,5 +/- 19,5 ans, la surface brûlée de 32 +/- 21%. La grande majorité (86,7%) des patients avaient LP > 2 mmol/L à l'admission. Une valeur > 4 mmol/L étaient la plus prédictive de complication septique, avec une sensibilité de 88%, une spécificité de 9% et une aire sous la courbe ROC de 0,82. La mortalité était de 36,25% et un seuil de LP à 4,46 mmol/L prédisait le décès avec une sensibilité de 86% et une spécificité de 92%. LP semble donc être un marqueur prédictif fiable de sepsis et de mortalité chez les brûlés.