what is it resistant rickets

A 13 yr old girl with h/o abnormal gait and lower limb deformity since 4-5yrs Treatment for Rickets at 3 and 6 yrs old Now height is 133cm Sys exam is normal.CNS also normal except gait is waddling. Scholastic performance is good and studying in 8th class No significant family history . She has younger sister 8 yr normal. Low phosphorus, high PTH, high alk po4, no acidosis.normal renal function. USG abdomen normal Suspecting HYPOPHOSPATEMIC RICKETS. XLHR KINDLY opine about further investigation and management



1/25 hydroxy vitD levels Start on Calcitriol

Is ter any hair and dental change

No sir

Can be vitamin D resistant rickets..needs further investigation ...Vitamin D levels both 25 hydroxy and 1,25 hydroxy

Vit d levels are normal. Investigation attached

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It's generally in inheritance..But here mond of her family member is suffering from. It's X dominate..So father's all the daughter ought have to suffer.. Vit D..(Calcirol).. Most commonly, it is caused by a mutation in the PHEX gene. Other growth hormones are also responsible...

Thank you sir Any other investigation do you suggest sir

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