Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypophosphatämische Rachitis mit Hypercalciurie

Hypercalciurische Rachitis ist eine autosomal rezessive Erkrankung, welche durch Mutationen des SLC34A3-Gens ausgelöst wird. Charakteristisch sind eine gestörte Knochenentwicklung aufgrund einer Hypophosphatämie und einer Hypercalciurie.

Symptome

Hypercalciurie
Die Hypercalciurie ist das Leitsymptom der HHRH meist mit Knochenveränderungen vergesellschaftet.

Gliederung

Störungen der renalen Phosphattransporter
Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 1
Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 2
Hypophosphatämische Rachitis mit Hypercalciurie
SLC34A3
Idiopathische Kalzifikation der Basalganglien 1

Referenzen:

1.

Beck L et al. (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.

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2.

Bergwitz C et al. (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

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3.

Lorenz-Depiereux B et al. (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

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4.

Tieder M et al. (1985) Hereditary hypophosphatemic rickets with hypercalciuria.

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5.

Jones A et al. (2001) Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene.

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6.

Tieder M et al. (1992) A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment.

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7.

Chen C et al. (1989) Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria.

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8.

Proesmans WC et al. (1987) Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria.

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9.

Tieder M et al. (1987) "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect.

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10.

Tieder M et al. (1979) [Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children].

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11.

Haussler M et al. (1977) Influence of phosphate depletion on the biosynthesis and circulating level of 1alpha,25-dihydroxyvitamin D.

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