Hypophosphatesia contraindicated treatment is:
Correct Answer: Vitamin D
Description: Ans: a (Vitamin D)Ref: Harrison, 18th ed. Pg. 3141In hypophosphatasia hypercalcaemia and hypercalciuria are common. So in contrast to rickets & osteo- malacia, calcium and vitamin D supplementation should be avoided.Hypophosphatasia* Caused by deficiency of TNSALP (tissue nonspecific alkaline phosphatase)* Mutation in HOPS gene (infantile hypophosphatasia gene) on chr lp36.* C/F-- Polyhydramnios & IUD- Infantile - Failure to thrive, rachitic deformities, functional craniosynostosis, raised ICT, pneumonia.- Childhood- Premature loss of deciduous teeth (hall mark of disease)- Rickets and osteomalacia- Adult - Metatarsal Stress fractures and femoral pseudofractures* Inv- Low ALP, hypercalcaemia, hypercalciuria. , normal/ high phosphorus- PTH, 25D, 1,25 D3 - Normal- High phosphoethanolamine and pyridoxal 5-phosphate (specific)* Rx- Calcium & vit D supplementation should be avoided- Low calcium diet- Glucocorticoids- Calcitonin
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