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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. Salles JP: Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clin Biochem Rev. 41(1):13-27, 2020
                              2. Offiah AC et al: Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 49(1):3-22, 2019
                              3. Takahashi Y et al: Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia. Prenat Diagn. 37(5):491-6, 2017
                              4. Whyte MP: Hypophosphatasia: enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 32(4):667-75, 2017
                              5. 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
                              6. Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
                              7. Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
                              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. Salles JP: Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clin Biochem Rev. 41(1):13-27, 2020
                                                          2. Offiah AC et al: Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 49(1):3-22, 2019
                                                          3. Takahashi Y et al: Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia. Prenat Diagn. 37(5):491-6, 2017
                                                          4. Whyte MP: Hypophosphatasia: enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 32(4):667-75, 2017
                                                          5. 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
                                                          6. Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
                                                          7. Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010