Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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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2.

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

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3.

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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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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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12.

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

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13.

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

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14.

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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15.

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

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16.

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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17.

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

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18.

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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19.

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

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20.

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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21.

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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22.

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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