Diseases
familial hypophosphatemia
For healthcare professionals — reference only. This page is a brief summary, not medical advice and not a substitute for official labeling or clinical judgement. Always verify before prescribing or dispensing.
Overview
Familial hypophosphatemia is a term that describes a group of rare inherited disorders characterized by impaired kidney conservation of phosphate and in some cases, altered vitamin D metabolism.
Symptoms
- hypophosphatemia
- bone pain
- slow growth and are shorter than their peers
Causes
- hereditary hypophosphatemic rickets can result from mutations in several genes.
Risk factors
- increased risk of familial hypophosphatemia if the parents or siblings have it.
Diagnosis
- blood test for calcium and phosphate
- imaging tests.
Medicines used
Frequently asked questions
What is familial hypophosphatemia?
Familial hypophosphatemia is a term that describes a group of rare inherited disorders characterized by impaired kidney conservation of phosphate and in some cases, altered vitamin D metabolism.
What are the symptoms of familial hypophosphatemia?
hypophosphatemia, bone pain, slow growth and are shorter than their peers
What causes familial hypophosphatemia?
hereditary hypophosphatemic rickets can result from mutations in several genes.
Which medicines are used for familial hypophosphatemia?
calcitriol, cholecalciferol, ergocalciferol
Full monographs, dosing and an interaction checker in the MediHelp app
Open the complete reference, check multi-drug interactions and use dosing tools in the MediHelp app.