Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Diagnosi neonatale di discinesia ciliare

NEONATAL DIAGNOSIS OF PRIMARY CILIARY DYSKINESIA: A CASE REPORT

E. Palumbo, G. Nasca, C. Malorgio, M. Branchi, G. Pellegrini

Reparto di Pediatria e Patologia Neonatale, Ospedale di Sondrio

Febbraio 2008 - pagg. 123 -124

Abstract
Primary ciliary dyskinesia is a rare, autosomal recessive genetic disease resulting from an abnormal ultra structural morphology of cilia. Such disease is rarely recognized in neonatal period. Recently, unexplained neonatal respiratory distress has been found to be a common clinical presentation of patients with primary ciliary dyskinesia, indicating that this is an important complex symptom in early life for this condition. The diagnosis requires a high index of suspicion, but this disease must be considered in any term neonate who develops unexplained respiratory distress, particularly when situs viscerum inversus is present. We report the case of a newborn affected by situs viscerus inversus who showed unexplained respiratory distress after 48 hours of life. Diagnosis was confirmed by the ultra structural study of cilia.
Parole chiave
Neonatal diagnosis Primary ciliary dyskinesia
Suggerite dall'AI
diagnosi neonatale
Classificazione MeSH
Cells Cellular Structures Cell Surface Extensions Cilia (3)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Abnormalities, Multiple Ciliopathies Ciliary Motility Disorders (8)
Persons Age Groups Infant Infant, Newborn (284)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Abnormalities, Multiple Ciliopathies Ciliary Motility Disorders Kartagener Syndrome (3)
Investigative Techniques Genetic Techniques Nucleic Acid Amplification Techniques Polymerase Chain Reaction (23)
Respiratory Tract Diseases Lung Diseases Respiratory Distress Syndrome Respiratory Distress Syndrome, Newborn (20)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Situs Inversus (2)
Leggi anche
RI Aggiornamento
La discinesia ciliare primitiva
M. Canciani, M. Don · 2004
Situs Inversus/Kartagener Syndrome, Cilia, Kartagener Syndrome, Ciliary Motility Disorders
RI Domande e risposte
Rientramenti sottosternali, distress respiratorio, discinesia ciliare Tibia vara, varismo arti infe...
· 2023
Kartagener Syndrome/Ciliary Motility Disorders, Ciliary Motility Disorders, Respiratory Distress Syndrome, Newborn
RI Problemi speciali
Le ciliopatie
V. Corazzi, F. Emma, G. Montini · 2013
Cilia, Kartagener Syndrome/Ciliopathies, Ciliary Motility Disorders/Ciliopathies
EL Contributi Originali - Casi contributivi
Diagnosi neonatale di discinesia cliare primitiva: descrizione di un caso
E. Palumbo, G. Nasca, C. Malorgio, M. Branchi, · 2008
Situs Inversus, Kartagener Syndrome/Ciliary Motility Disorders, Ciliary Motility Disorders, Respiratory Distress Syndrome, Newborn
RI Speciale
Pneumologia
Cutrera R, Amaddeo A · 2021
Kartagener Syndrome/Ciliary Motility Disorders, Ciliary Motility Disorders
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Corrispondenza: emipalu2003@yahoo.it