Low serum alkaline phosphatase activity due to asymptomatic hypophosphatasia in a teenage girl
| Autor: | Mark A. Cervinski, Samuel J. Casella, Abigail A. Johnston, Zahra Shajani-Yi |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
Adolescent Clinical Biochemistry Hypophosphatasia 030209 endocrinology & metabolism Rickets Asymptomatic Gastroenterology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Internal medicine medicine Humans Vitamin B12 pernicious anemia Creatinine Osteomalacia business.industry Ceruloplasmin General Medicine Alkaline Phosphatase medicine.disease chemistry Ethanolamines Pyridoxal Phosphate Alkaline phosphatase Female medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Clinical Biochemistry. 59:90-92 |
| ISSN: | 0009-9120 |
| DOI: | 10.1016/j.clinbiochem.2018.06.018 |
| Popis: | OBJECTIVE The case report details an unusual presentation of a teenage patient with hypophosphatasia. PATIENT AND METHODS A 17 year-old female patient presented to endocrinology for the evaluation of fatigue and possible adrenal insufficiency. In the course of her clinical evaluation she was noted to have a low serum alkaline phosphatase activity. Relatively few conditions are associated with a low serum alkaline phosphatase including Wilson's disease, hypophosphatasia, pernicious anemia and untreated hypothyroidism. RESULTS Laboratory testing for hypothyroidism were unrevealing, as were the results for vitamin B12 and vitamin D. Testing for Wilson's disease revealed a ceruloplasmin concentration of 165 mg/L (Reference Interval, 160-450 mg/L), however sequencing of the ATP7B gene revealed no deleterious mutations. Measurement of serum pyridoxal phosphate and urine phosphoethanolamine for the diagnosis of hypophosphatasia revealed concentrations of 541.5 nmol/L (reference interval: 29.6-295.5) and 707 mmol/mol creatinine (reference interval |
| Databáze: | OpenAIRE |
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