Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Osteopetrose

Es handelt sich bei der Osteopetrose um eine angeborene Erkrankung der Knochenbildung mit generalisierter Sklerose und Verhärtung des Knochens. Aufgrund der Verdrängungssituation im Knochenmark findet sich zusätzlich meist eine Anämie und extramedulläre Blutbildung, ebenso Splenomegalie.

Gliederung

Metabolische Knochenerkrankungen
Erbliche Erkrankungen mit heterotroper Knochenbildung
Hereditäre Rachitis
Osteopetrose
Autosomal dominante Osteopetrose 1
LRP5
Autosomal rezessive Osteopetrose 3 mit renaler tubulärer Azidose
CA2
Osteoporose
Pseudohypoparathyreoidismus

Referenzen:

1.

Van Hul W et al. () Recent progress in the molecular genetics of sclerosing bone dysplasias.

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2.

Kocher MS et al. (2003) Osteopetrosis.

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3.

Helfrich MH et al. (2003) Osteoclast diseases.

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4.

Teitelbaum SL et al. (2003) Genetic regulation of osteoclast development and function.

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5.

Kasow KA et al. (2004) Malignant infantile osteopetrosis and primary pulmonary hypertension: a new combination?

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6.

Mohn A et al. (2004) Autosomal malignant osteopetrosis. From diagnosis to therapy.

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7.

Susani L et al. (2004) TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

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8.

Shah GN et al. (2004) 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.

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9.

Chu K et al. (2005) Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.

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10.

Schmitz G et al. (2006) Pharmacogenomics of cholesterol-lowering therapy.

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11.

Kornak U et al. (2006) Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.

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12.

Pangrazio A et al. (2006) Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.

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