scholarly journals Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

2004 ◽  
Vol 24 (3) ◽  
pp. 272-272 ◽  
Author(s):  
Gul N. Shah ◽  
Giuseppe Bonapace ◽  
Peiyi Y. Hu ◽  
Pietro Strisciuglio ◽  
William S. Sly
Keyword(s):  
Carbonic Anhydrase ◽  
Renal Tubular Acidosis ◽  
Direct Sequencing ◽  
Deficiency Syndrome ◽  
Carbonic Anhydrase Ii ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Carbonic Anhydrase Ii Deficiency ◽  
Brain Calcification ◽  
Renal Tubular

Carbonic Anhydrase II Deficiency Syndrome: Recessive Osteopetrosis With Renal Tubular Acidosis and Cerebral Calcification

PEDIATRICS ◽  
1986 ◽  
Vol 77 (3) ◽  
pp. 371-381
Author(s):  
Arne Ohlsson ◽  
William A. Cumming ◽  
Adrien Paul ◽  
William S. Sly
Keyword(s):  
Carbonic Anhydrase ◽  
Renal Tubular Acidosis ◽  
Neonatal Period ◽  
Growth Failure ◽  
Deficiency Syndrome ◽  
Carbonic Anhydrase Ii ◽  
Cerebral Calcification ◽  
Restrictive Lung Disease ◽  
Carbonic Anhydrase Ii Deficiency ◽  
Renal Tubular

Four new Saudi Arabian cases of the carbonic anhydrase II deficiency syndrome from two families are described. This autosomal recessive syndrome includes osteopetrosis with renal tubular acidosis and cerebral calcification. Additional features are mental retardation, growth failure, typical facial appearance, and abnormal teeth. Two patients showed evidence of restrictive lung disease, a finding not previously described. One of the patients reported represents the first neonate reported to be affected with this syndrome. Intrauterine growth was normal, but metabolic acidosis was already evident in the neonatal period. Radiographic evidence of osteopetrosis was probably absent at birth but appeared during the late neonatal period. Carbonic anhydrase II deficiency was demonstrated in erythrocyte hemolysates from the older two siblings of this neonate, and a 50% normal level of carbonic anhydrase II was demonstrated in the erythrocyte hemolysate from their father.

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