Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia
نویسندگان
چکیده
منابع مشابه
Modeling alveolar capillary dysplasia.
To the Editor, I read with great interest the article by Han et al,1 who studied lung morphology in developing endothelial NO synthase (eNOS)deficient mice. The authors presented exciting data on defective peripheral lung vessel development, which was combined with impaired alveolar maturation. These data reflect very well the current thinking of lung development regulated by molecular cross-ta...
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Alveolar capillary dysplasia (ACD) is an uncommon cause of irreversible persistent pulmonary hypertension in full-term newborn. In ACD there is a failure of formation of air - blood barrier in addition to misalignment of pulmonary veins. The etiology of the disease is still not understood. We present a case report of a full-term newborn with ACD associated with anorectal anomaly.
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Alveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well-being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and FOXF1 gene testing may help in diagnosis.
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Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This review aims to address recent findings in the etiology and genetics of ACD/MPV and to raise awareness of this poorly known disease, which may also present as milder, unclassified forms. Successively discussed are what is known about the epide...
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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, developmental lung disorder, which has been increasingly reported. This entity usually presents as neonatal persistent pulmonary hypertension that is unresponsive to treatment, and is known to be uniformly fatal. Recent discoveries in the genetic field, and intensive treatments, may change the natural course ...
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ژورنال
عنوان ژورنال: BMC Pediatrics
سال: 2020
ISSN: 1471-2431
DOI: 10.1186/s12887-020-02200-y