Pulmonary hemosiderosis in children with Down syndrome: a national experience

Abstract

BackgroundPulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosiderosis and Down syndrome (DS), and at least one tested autoantibody was found positive in 50%. This study investigates the relationships between pulmonary hemosiderosis and DS.MethodsPatients younger than 20 years old and followed for pulmonary hemosiderosis were retrieved from the RespiRare® database. Clinical, biological, functional, and radiological findings were collected, and DS and non-DS patients’ data were compared.ResultsA total of 34 patients (22 girls and 12 boys) were included, among whom nine (26%) presented with DS. The mean age at diagnosis was 4.1 ± 3.27 years old for non-DS and 2.9 ± 3.45 years old for DS patients. DS patients tended to present a more severe form of the disease with an earlier onset, more dyspnoea at diagnosis, more frequent secondary pulmonary hypertension, and an increased risk of fatal evolution.ConclusionsDS patients have a higher risk of developing pulmonary hemosiderosis, and the disease seems to be more severe in this population. This could be due to the combination of an abnormal lung capillary bed with fragile vessels, a higher susceptibility to autoimmune lesions, and a higher risk of evolution toward pulmonary hypertension. A better screening for pulmonary hemosiderosis and a better prevention of hypoxia in DS paediatric patients may prevent a severe evolution of the disease.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0806-6) contains supplementary material, which is available to authorized users.

Pulmonary Fibrosis in Children

“…This property is well known in preterm infants, and antenatal corticosteroids are widely used to enhance lung maturation and surfactant synthesis by AEC2 in mothers at risk of premature delivery to reduce the risk of respiratory distress syndrome [70]. It has been associated with beneficial effects in almost all chILD forms, including surfactant disorders [3,21,69,71,72], hemosiderosis [73,74], but also in severe forms of neuroendocrine cell hyperplasia of infancy (NEHI) [75].…”

Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis

“…Thus, we think that the chance association of HCS and IPH in the present case is highly unlikely. It is noteworthy that Down syndrome (DS) patients reportedly have a higher risk of developing IPH due to the combination of an abnormal lung capillary bed with fragile vessels, and a higher susceptibility to autoimmune lesions . Thus, abnormal pulmonary connective tissues fragility with a tendency to toward IPH development in the present patient, as postulated in DS patients, may account for such serious complications.…”

Health‐related quality of life in infants and children with interstitial lung disease

“…At least one extrapulmonary organ was involve in n = 29, 37% of the patients (central nervous system (n = 11), liver (n = 8), thyroid (n = 8), spleen (n = 5), skin (n = 4), joints (n = 2), kidney (n = 2), digestive system (n = 1), hematologic system (n = 1), muscular (n = 1), eyes (n = 1), and ENT (n = 1)). Two patients presented a chILD associated to a Down Syndrome . At the time of the study, 50 (64%) patients were currently under treatment: 35% received corticosteroid pulses (70% intravenous), 29% required long‐term oxygen therapy and 18% were under nutritional support.…”

“…Two patients presented a chILD associated to a Down Syndrome. 31 At the time of the study, 50 (64%) patients were currently under treatment: 35% received corticosteroid pulses (70% intravenous), 29% required long-term oxygen therapy and 18% were under nutritional support.…”