Hypotonická dehydratace jako první příznak cystické fibrózy

Hypotonic Dehydration as the First Symptom of Cystic Fibrosis

A six-month old infant developed a breakdown of the milieu interieur (hypotonic dehydration and metabolicalkalosis) due to chronic electrolyte losses by perspiration potentiated by a hot summer. The hypoelectrolytaemicshock led to cerebral oedema associated with unconsciousness, spasms and protracted hypoxia which led to thedevelopment of irreversible posthypoxic encephalopathy and secondary epilepsy. Repeated inflammations of theairways and progressing cachexia were at first associated with the neurological affection of the patient. Not evenfrequent prolapses of the rectum, the presence of nasal polyps and cultivation findings of Pseudomonas aeruginosaassociated with the relapsing „obstructional“ bronchitis aroused suspicion of cystic fibrosis (CF). The diagnosiswas made only at the age of seven years by repeated positive sweat tests and the detection of two mutations of theCFTR gene. In the differential diagnosis of hypoelectrolytaemic disbalance it is necessary to take into considerationalso CF, the initial stages of which need not always have a typical course. Early assessment of the diagnosis andinitiation of the appropriate treatment may decide in a fundamental way on the patient’s further fate.

Key words:
hypotonic dehydration, metabolic alkalosis, cystic fibrosis