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Hypophosphatasia
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Definitions

              • Rare inherited disorder of bone metabolism resulting in loss of function of gene ALPL coding for tissue-nonspecific alkaline phosphatase (TNSALP)
              • 3 subtypes
                • Perinatal lethal
                  • Micromelia and severe hypomineralization
                • Infantile
                  • Rickets-like skeletal changes, fractures, premature shedding of teeth
                • Late onset (adult form)
                  • Often limited to biochemical findings
                  • Bowing, pseudofractures, ectopic calcifications in spinal ligaments and joint cartilage, rachitic changes in ribs

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Radiographic Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              Selected References

                              1. Kosnik-Infinger L et al: Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus. 38(5):E10, 2015
                              2. Liu J et al: Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. Bone. 78:203-11, 2015
                              3. Whyte MP et al: Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 75:229-39, 2015
                              4. Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
                              5. Silvent J et al: Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem. 289(35):24168-79, 2014
                              6. Katsube Y et al: Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient. Gene Ther. 17(4):494-502, 2010
                              7. Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
                              8. Collmann H et al: Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 25(2):217-23, 2009
                              9. Fauvert D et al: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 10:51, 2009
                              10. Tadokoro M et al: New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr. 154(6):924-30, 2009
                              11. Undale AH et al: Mesenchymal stem cells for bone repair and metabolic bone diseases. Mayo Clin Proc. 84(10):893-902, 2009
                              12. Whyte MP: Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 24(6):1132-4, 2009
                              13. Brun-Heath I et al: A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet. 73(3):245-50, 2008
                              14. Simon-Bouy B et al: Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn. 28(11):993-8, 2008
                              15. Stevenson DA et al: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab. 93(9):3443-8, 2008
                              16. Sinico M et al: Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenat Diagn. 27(3):222-7, 2007
                              17. Brun-Heath I et al: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab. 84(3):273-7, 2005
                              18. Whyte MP et al: Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 18(4):624-36, 2003
                              19. Mornet E: Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 15(4):309-15, 2000
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Top Differential Diagnoses

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Definitions

                                          • Rare inherited disorder of bone metabolism resulting in loss of function of gene ALPL coding for tissue-nonspecific alkaline phosphatase (TNSALP)
                                          • 3 subtypes
                                            • Perinatal lethal
                                              • Micromelia and severe hypomineralization
                                            • Infantile
                                              • Rickets-like skeletal changes, fractures, premature shedding of teeth
                                            • Late onset (adult form)
                                              • Often limited to biochemical findings
                                              • Bowing, pseudofractures, ectopic calcifications in spinal ligaments and joint cartilage, rachitic changes in ribs

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Radiographic Findings

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          Selected References

                                                          1. Kosnik-Infinger L et al: Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus. 38(5):E10, 2015
                                                          2. Liu J et al: Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. Bone. 78:203-11, 2015
                                                          3. Whyte MP et al: Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 75:229-39, 2015
                                                          4. Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
                                                          5. Silvent J et al: Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem. 289(35):24168-79, 2014
                                                          6. Katsube Y et al: Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient. Gene Ther. 17(4):494-502, 2010
                                                          7. Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
                                                          8. Collmann H et al: Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 25(2):217-23, 2009
                                                          9. Fauvert D et al: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 10:51, 2009
                                                          10. Tadokoro M et al: New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr. 154(6):924-30, 2009
                                                          11. Undale AH et al: Mesenchymal stem cells for bone repair and metabolic bone diseases. Mayo Clin Proc. 84(10):893-902, 2009
                                                          12. Whyte MP: Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 24(6):1132-4, 2009
                                                          13. Brun-Heath I et al: A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet. 73(3):245-50, 2008
                                                          14. Simon-Bouy B et al: Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn. 28(11):993-8, 2008
                                                          15. Stevenson DA et al: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab. 93(9):3443-8, 2008
                                                          16. Sinico M et al: Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenat Diagn. 27(3):222-7, 2007
                                                          17. Brun-Heath I et al: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab. 84(3):273-7, 2005
                                                          18. Whyte MP et al: Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 18(4):624-36, 2003
                                                          19. Mornet E: Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 15(4):309-15, 2000