Abstract

Cystic fibrosis is the most common life-limiting recessive genetic disorder in the white population. In the absence of neonatal screening, in Romania the diagnosis is established based on the iontophoresis test in children that present clinical respiratory and/or digestive symptoms. The authors present the case of a patient aged 15 years and 3 months, that submitted in the Oncohematology Paediatric Clinic with suspected abdominal tumour detected during an echography performed ambulatory. Anamnesis showed accelerated intestinal transit in the early years (6–7 steatorrhoeic stools/day) and persistent cough associated with weight loss, about a month before admission. Abdominal ultrasound, upper gastrointestinal endoscopy, abdominal and thoracic CT scan, and abdominal MRI with contrast were performed, that allowed to establish the diagnosis of liver cirrhosis, portal hypertension with esophageal varices grade 1, fibrosis and bronchiectasis manly of the left lung and pancreatic pseudochist. To assess the degree of fibrosis, fibroscan was performed: Child PUGH = B; MELD=17. Also, were excluded the postinfectious, autoimmune cirrhosis, Wilson’s disease, alpha 1-antitrypsin deficiency. Iontophoresis test diagnosed cystic fibrosis, pulmonary and digestive type. Microbiological examinations of hypopharyngeal aspirates showed pulmonary infection with Staphylococcus aureus, Pseudomonas aeruginosa, Haemophilus influenzae. Under replacement therapy with pancreatic enzymes, liver protection and ursodeoxycholic acid, targeted antibiotics, mucolytics, fat-soluble vitamin therapy replacement, the evolution was slow favourable.

The authors conclude that it is necessary to introduce neonatal screening for early diagnosis of cystic fibrosis and rapid initiation of treatment as to improve long-term prognosis and survival rate in these patients.