Uncommon presenting manifestations of cystic fibrosis: A clinical alert

L. Romano, L. Minicucci, M. C. Schiaffino, P. Serravalle, M. C. Diana, C. Romano

Research output: Contribution to journalArticle


Cystic Fibrosis (CF) is a multisystemic disease characterized by a wide range of both presenting manifestations and clinical pattern. It has to be considered in the differential diagnosis of many paediatric conditions. Presenting symptoms may be critical in order to come to a correct and early diagnosis. Presenting symptoms of 314 patients who have been diagnosed at our CF Centre were reviewed. The incidence of common symptoms is reported: steatorrhea is the most frequent presenting manifestation in infants; the incidence of bronchopulmonary symptoms increases with age. Presenting symptoms in cases of delayed diagnosis (21 patients, 7%) were not different than in a group of matching patients diagnosed at a younger age, except that the incidence of pancreatic insufficiency was lower (65% versus 90%). The unusual modes of presentation we observed are listed in Table 3. In all these cases, the presenting symptom was the only clinical manifestation showed by the patient at diagnosis. In particular, lung involvement was clinically inapparent and the nutritional status of the patient was normal in the majority of the patients. Our data show that it is possible that a single-organ involvement is the presenting manifestation of CF: in this case, differential diagnosis can be difficult. Our data support the fact that indications to the sweat test have to be updated: unusual clinical conditions in general should always be reviewed with an eye to the possibility of CF.

Original languageEnglish
Pages (from-to)1-7
Number of pages7
JournalPadiatrie und Padologie
Issue number1
Publication statusPublished - 1995


  • cystic fibrosis
  • diagnosis, atypical symptoms

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Uncommon presenting manifestations of cystic fibrosis: A clinical alert'. Together they form a unique fingerprint.

  • Cite this

    Romano, L., Minicucci, L., Schiaffino, M. C., Serravalle, P., Diana, M. C., & Romano, C. (1995). Uncommon presenting manifestations of cystic fibrosis: A clinical alert. Padiatrie und Padologie, 30(1), 1-7.