Primary pulmonary hypoplasia

Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.



Input patient's signs and symptoms


Narrow down the case reports



Total: 9 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 1464995
 [A case of right pulmonary hypoplasia with congenital diaphragmatic hernia and dextrocardia].
Andou A, Shimizu N, Okabe K, Date H, Teramoto S.
Nihon Kyobu Shikkan Gakkai Zasshi. 1992;30(10):1889-94.
Pulmonary hypoplasia Hernia
Adult Dextrocardia Diaphragmatic Hernia Females Homo sapiens Lung Magnetic Resonance Imaging X-Ray Computed Tomography
2
(4.0%)		 29794790
 Left lung hypoplasia with a right tuberculous pleural effusion after childbirth: A case report.
Lin S, Guan W, LaZhou C, Shi Y.
Medicine (Baltimore). 2018;97(21):e10868.
Cor pulmonale
Adult Antitubercular Agents Birth Females Homo sapiens Lung Mycobacterium tuberculosis Pleural Tuberculosis Pregnancy Respiratory Insufficiency Tuberculosis, Pulmonary X-Ray Computed Tomography
2
(4.0%)		 26719398
 Mitral valve plasty using left antero-axillary thoracotomy for a patient with pulmonary hypoplasia.
Shimamura J, Yamamoto S, Oshima S, Sasaguri S.
Eur J Cardiothorac Surg. 2016;50(2):385-6.
Pulmonary hypoplasia
Axilla Cardiopulmonary Bypass Echocardiography Females Homo sapiens Lung Middle Aged Mitral Valve Mitral Valve Insufficiency Radiography, Thoracic Thoracotomy X-Ray Computed Tomography
2
(4.0%)		 24332364
 A case of congenital Echovirus 11 infection acquired early in pregnancy.
Tassin M, Martinovic J, Mirand A, Peigue-Lafeuille H, Picone O, Benachi A, Vauloup-Fellous C.
J Clin Virol. 2014;59(1):71-3.
Oligohydramnios
Adult Echovirus Infections Fatal Outcome Females Homo sapiens Lung Pregnancy Pregnancy Complications, Infectious
2
(4.0%)		 24026186
 Unilateral primary lung hypoplasia diagnosed in adulthood.
Katsenos S, Antonogiannaki EM, Tsintiris K.
Respir Care. 2014;59(4):e47-50.
Pneumonia
Adult Bronchi Bronchoscopy Delayed Diagnosis Homo sapiens Lung Male Respiratory Function Tests X-Ray Computed Tomography
2
(4.0%)		 22606552
(3350092)
 3D Imaging in Unilateral Primary Pulmonary Hypoplasia in an Adult: A Case Report.
Georgescu A, Nuta C, Bondari S.
Case Rep Radiol. 2011;2011:659586.
Hypertension
2
(4.0%)		 12919504
 Primary pulmonary hypoplasia: a case report and review of the literature.
Odd DE, Battin MR, Hallam L, Knight DB.
J Paediatr Child Health. 2003;39(6):467-9.
Respiratory distress
Fatal Outcome Females Homo sapiens Infant, Newborn Lung
2
(4.0%)		 12590284
 Congenital acinar dysplasia. Familial cause of a fatal respiratory failure in a neonate.
Al-Senan KA, Kattan AK, Al-Dayel FH.
Saudi Med J. 2003;24(1):88-90.
Oligohydramnios
Fatal Outcome Females Homo sapiens Infant, Newborn Lung Respiratory Insufficiency Ultrasonography
2
(4.0%)		 335880
 Primary pulmonary hypoplasia: report of a case with polyhydramnios.
Mendelsohn G, Hutchins GM.
Am J Dis Child. 1977;131(11):1220-3.
Polyhydramnios
Adult Blood Gas Analysis Females Homo sapiens Hydrothorax Infant, Newborn Lung Polyhydramnios Pregnancy
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0002089 Pulmonary hypoplasia Obligate (100%)
HP:0000961 Cyanosis Frequent (79-30%)
HP:0002091 Restrictive ventilatory defect Frequent (79-30%)
HP:0002104 Apnea Frequent (79-30%)
HP:0002643 Neonatal respiratory distress Frequent (79-30%)
HP:0002789 Tachypnea Frequent (79-30%)
HP:0012418 Hypoxemia Frequent (79-30%)
HP:0030829 Abnormal breath sound Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001511 Intrauterine growth retardation Occasional (29-5%)
HP:0001651 Dextrocardia Occasional (29-5%)
HP:0001684 Secundum atrial septal defect Occasional (29-5%)
HP:0002205 Recurrent respiratory infections Occasional (29-5%)
HP:0002778 Abnormal trachea morphology Occasional (29-5%)
HP:0003065 Patellar hypoplasia Occasional (29-5%)
HP:0040045 Abnormality of the hemidiaphragms Occasional (29-5%)
HP:0000071 Ureteral stenosis Very rare (4-1%)
HP:0002099 Asthma Very rare (4-1%)
HP:0002107 Pneumothorax Very rare (4-1%)
HP:0030966 Abnormal pulmonary artery morphology Very rare (4-1%)
HP:0032094 Increased circulating surfactant protein level Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0002089 Pulmonary hypoplasia 2
HP:0002098 Respiratory distress 1
HP:0002202 Pleural effusion 1
HP:0100790 Hernia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID