Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Infantile Hypophosphatasie

Die infantile Hypophosphatasie ist die schwerste Form der Hypophosphatasie. Sie manifestiert sich bereits im frühsten Kindesalter und verläuft in etwa 50% der Fälle tödlich. Der Erkrankung liegen Mutationen des ALPL-Gen zugrunde. Die Vererbung is autosomal rezessiv.

Management

Zur Therapie steht das Strensiq® (asfotase alfa) zur Verfügung.

Gliederung

Hypophosphatasie
Adulte Hypophosphatasie
Infantile Hypophosphatasie
ALPL
Kindliche Hypophosphatasie
Odontohypophosphatasie

Referenzen:

1.

Macfarlane JD et. al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships.

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2.

Henthorn PS et. al. (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

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3.

Weiss MJ et. al. (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

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4.

Greenberg CR et. al. (1993) A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

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5.

Litmanovitz et. al. (2002) Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.

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6.

Stevenson DA et. al. (2008) Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

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7.

Fallon MD et. al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms.

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8.

Morava E et. al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

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9.

Unger S et. al. (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia.

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10.

None (1957) Hypophosphatasia.

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11.

Scriver CR et. al. (1969) Pseudohypophosphatasia.

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12.

None () Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case.

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13.

Méhes K et. al. (1972) Hypophosphatasia: screening and family investigations in an endogamous Hungarian village.

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14.

Warshaw JB et. al. (1971) Serum alkaline phosphatase in hypophosphatasia.

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15.

Whyte MP et. al. (1984) Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients.

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16.

Eastman JR et. al. (1983) Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality.

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17.

Albeggiani A et. al. (1982) Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years.

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18.

Wolff C et. al. (1982) Hypophosphatasia congenita letalis.

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19.

Whyte MP et. al. (1982) Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease.

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20.

Eastman J et. al. (1982) Lethal and mild hypophosphatasia in half-sibs.

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21.

Kousseff BG et. al. (1981) Prenatal diagnosis of hypophosphatasia.

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22.

Vandevijver N et. al. (1998) Lethal hypophosphatasia, spur type: case report and fetopathological study.

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23.

BETHUNE JE et. al. (1960) Hypophosphatasia in the adult.

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24.

RATHBUN JC et. al. (1961) Hypophosphatasia: a genetic study.

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25.

Cahill RA et. al. (2007) Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts.

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26.

None (1948) Hypophosphatasia; a new developmental anomaly.

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27.

Zankl A et. al. (2008) Specific ultrasonographic features of perinatal lethal hypophosphatasia.

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28.

Whyte MP et. al. (2012) Enzyme-replacement therapy in life-threatening hypophosphatasia.

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29.

Rudd NL et. al. (1976) Prenatal diagnosis of hypophosphatasia.

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30.

Mulivor RA et. al. (1978) Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies.

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31.

Kishi F et. al. (1991) Prenatal diagnosis of infantile hypophosphatasia.

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32.

Greenberg CR et. al. (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers.

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33.

Shohat M et. al. (1991) Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.

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34.

Fedde KN et. al. (1990) Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts.

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35.

Chodirker BN et. al. (1990) Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.

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36.

Moore CA et. al. (1990) Infantile hypophosphatasia: autosomal recessive transmission to two related sibships.

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37.

Weiss MJ et. al. (1989) Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

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38.

Warren RC et. al. (1985) First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase.

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39.

Chodirker BN et. al. (1987) Infantile hypophosphatasia--linkage with the RH locus.

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40.

Whyte MP et. al. (1986) Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase.

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41.

Cole DE et. al. (1986) Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia.

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42.

None (1985) Inheritance of hypophosphatasia.

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43.

Ornoy A et. al. (1985) Histologic and ultrastructural studies on the mineralization process in hypophosphatasia.

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44.

Pimstone B et. al. (1966) Hypophosphatasia: genetic and dental studies.

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45.

Eisenberg E et. al. () Hypophosphatasia in an adult. A case report.

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46.

Teree TM et. al. (1968) Hypophosphatasia: clinical and metabolic studies.

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