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Cystic fibrosis in two Chinese infants in Taiwan
1Section of Pediatrics, Veterans General Hospital, Taichung, Taiwan, R.O.C.
Insights
Cystic fibrosis (CF) is a genetic disorder affecting infants, presenting with respiratory and digestive issues. Early diagnosis and management are crucial for improving outcomes in CF patients.
Area of Science:
- Pediatrics
- Medical Genetics
- Pulmonology
Background:
- Cystic fibrosis (CF) diagnosis in infants often presents challenges due to nonspecific symptoms.
- Early identification is critical for timely intervention and management of CF.
Observation:
- Two female infants presented with recurrent pneumonia, dehydration, poor weight gain, and metabolic alkalosis.
- Diagnostic workup included abnormal chest X-rays, positive stool fat, and elevated sweat chloride levels (Na/Cl: 155/185 nmol/L and 127/135 nmol/L).
- Family history suggested a genetic component, with deceased elder siblings exhibiting similar symptoms.
Findings:
- Case 1, diagnosed at nine months, succumbed at 16 months; autopsy revealed pancreatic exocrine atrophy and duct obstruction.
- Case 2, diagnosed at six months, showed a specific CFTR gene mutation (1898+5 G-->T on chromosome 7).
- Pancreatic sonography did not reveal significant cystic changes, highlighting limitations in imaging for early CF diagnosis.
Implications:
- This case series underscores the importance of considering cystic fibrosis in infants with failure to thrive and recurrent respiratory infections.
- Elevated sweat chloride levels and genetic testing are vital for confirming CF diagnosis, especially when pancreatic imaging is inconclusive.
- Prompt diagnosis and multidisciplinary management, including dietary and physical therapy, are essential for improving the prognosis of pediatric cystic fibrosis patients.
Abstract:
Cystic fibrosis was diagnosed in two female infants, respectively nine months old (Case 1) and six months old (Case 2). Clinical presentation of these two infants showed frequent episodes of pneumonia, dehydration and poor weight gain, despite fair intake of food since birth. Hyponatremic, hypochloremic metabolic alkalosis had been found during their previous hospitalizations. In Case 1, stool fat was positive with negative trypsin test. Both cases had abnormal findings on chest X-ray films, but the pancreas showed no remarkable cystic changes from sonography. Plastic-bag method of sweat test showed Na/Cl: 155/185 nmol/L in Case 1, Na/Cl: 127/135 nmol/L in Case 2. A family history was suggested, since each one had an elder brother who had died in early infancy with similar clinical presentations. Both patients were put on special diet therapy as well as chest physical therapy. Case 1 died suddenly at 16 months of age. Autopsy revealed mucusplugged dilated ducts with atrophy of the exocrine portion of the pancreas. DNA analysis in Case 2 showed abnormal mutation point at 1898+5 G-->T on chromosome 7.