Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification)

Autor:	G J, Schwartz, L P, Brion, H E, Corey, H D, Dorfman
Rok vydání:	1991
Předmět:	Male Radiography Brain Diseases Osteopetrosis Calcinosis Humans Infant Genes Recessive Acidosis Renal Tubular Syndrome Carbonic Anhydrases
Zdroj:	Skeletal radiology. 20(6)
ISSN:	0364-2348
Popis:	A 4-month-old infant with bronchiolitis was found to have hyperdense bones on chest roentgenograms. The diagnosis of osteopetrosis was demonstrated by generalized increased radiological bone density and by a bone biopsy showing persistence of calcified cartilage. The infant also had a mixed proximal and distal renal tubular acidosis requiring as much as 12 mEq/kg per day of sodium bicarbonate. Measurement of his erythrocyte carbonic anhydrase activity revealed a deficiency of CA II. His parents showed values of CA activity that were intermediate between controls and the proband. Thus, this is a patient with the CA II deficiency syndrome; he is the youngest reported case without any family history of osteopetrosis to be diagnosed initially on the basis of his radiographic features.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::edfaf76a1613ef5ca026a816c7be6604 https://pubmed.ncbi.nlm.nih.gov/1925679 Zobrazit plný text záznamu Full text from SpringerLink