[A patient with type ZZ alpha 1-antitrypsin deficiency and hypercalcemia caused by sarcoidosis].
The history of illness of an eight-year-old boy is presented. Fifteen days old he had been hospitalized because of vomiting, diarrhoea and prolonged jaundice. Alpha 1-antitrypsin deficiency (genotype PiZZ) was diagnosed. At the age of nearly eight complaints started, such as headache, apathy, nausea and vomiting. Sarcoidosis was diagnosed on account of hypercalcemia (3.48-3.68 mmol/l), an elevated serum angiotensin converting enzyme (60 U/l), a positive Kveim test and the fact that other diseases could be excluded. The prognosis of a combination of a serious alpha 1-antitrypsin deficiency and sarcoidosis is discussed. This combination, as far as we have been able to trace, has not been described before.
D002648:Child; D005838:Genotype; D006801:Humans; D006934:Hypercalcemia / Q000209:etiology*; D008297:Male; D011241:Prednisone / Q000627:therapeutic use; D012507:Sarcoidosis / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin; D011241:Prednisone
Een patiënt met alpha 1-antitrypsine deficiëntie type ZZ en hypercalciëmie ten gevolge van sarcoïdose.