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Gemischte renale tubuläre Azidose 3 mit Osteopetrose 3

Die renal-tubuläre Azidose Typ 3 ist eine autosomal rezessive Erkrankung, welche auf ein Defekt der Carboanhydrase 2,Gen CA2, zurückzuführen ist. Sie ist gekennzeichnet durch eine sowohl im proximalen, wie auch im distalen Tubulus gestörte Säuresekretion, eine Osteopetrose Typ 3 und zerebrale Verkalkungen.

Gliederung

Renale tubuläre Azidose
Distale renale tubuläre Azidose (autosomal dominant)
Distale renale tubuläre Azidose (autosomal rezessiv)
Distale renale tubuläre Azidose mit Schwerhörigkeit (autosomal rezessiv)
Gemischte renale tubuläre Azidose 3 mit Osteopetrose 3
CA2
Proximale renale tubuläre Azidose
Renale tubuläre Azidose mit Arthrogrypose

Referenzen:

1.

Lotan D et al. (2006) Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.

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2.

Fathallah DM et al. (1997) Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus.

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3.

Hu PY et al. (1997) Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.

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4.

Soda H et al. (1996) A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.

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5.

Aramaki S et al. (1993) Carbonic anhydrase II deficiency in three unrelated Japanese patients.

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6.

Soda H et al. (1995) Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).

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7.

Whyte MP et al. (1980) Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.

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8.

Ohlsson A et al. (1980) Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.

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9.

Bourke E et al. (1981) Renal tubular acidosis and osteopetrosis in siblings.

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10.

Sly WS et al. (1983) Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

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11.

Vainsel M et al. (1972) Osteopetrosis associated with proximal and distal tubular acidosis.

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12.

Guibaud P et al. (1972) [Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship].

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13.

Sly WS et al. (1985) Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

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14.

Al Rajeh S et al. (1988) The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters.

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15.

Cochat P et al. (1987) [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].

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16.

Ohlsson A et al. (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.

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17.

Sundaram V et al. (1986) Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.

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18.

Strisciuglio P et al. (1990) Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?

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19.

Venta PJ et al. (1991) Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.

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20.

Roth DE et al. (1992) Molecular basis of human carbonic anhydrase II deficiency.

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21.

Hu PY et al. (1992) A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

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22.

Borthwick KJ et al. (2003) A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

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23.

OMIM.ORG article

Omim 259730 external link
24.

Orphanet article

Orphanet ID 2785 external link
Update: 14. August 2020
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