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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
- Perinatal lethal
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Salles JP: Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clin Biochem Rev. 41(1):13-27, 2020
- Offiah AC et al: Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 49(1):3-22, 2019
- 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
- Whyte MP: Hypophosphatasia: enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 32(4):667-75, 2017
- 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
- Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
- Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
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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
- Perinatal lethal
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Salles JP: Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clin Biochem Rev. 41(1):13-27, 2020
- Offiah AC et al: Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 49(1):3-22, 2019
- 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
- Whyte MP: Hypophosphatasia: enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 32(4):667-75, 2017
- 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
- Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
- Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
