RT Book, Section
A1 Fitzgerald, Paul A.
A2 Papadakis, Maxine A.
A2 McPhee, Stephen J.
A2 Rabow, Michael W.
A2 McQuaid, Kenneth R.
SR Print(0)
ID 1184697691
T1 Rickets & Osteomalacia
T2 Current Medical Diagnosis & Treatment 2022
YR 2022
FD 2022
PB McGraw-Hill Education
PP New York, NY
SN 9781264269389
LK accessmedicine.mhmedical.com/content.aspx?aid=1184697691
RD 2024/04/23
AB Key  Clinical  Updates  in  Rickets  &  OsteomalaciaPatients  with  high  FGF-23  levels  can  have  genetic  testing  for  X-linked  hypophosphatemic  rickets  (PHEX),  autosomal  dominant  hypophosphatemic  rickets  (FGF23),  and  autosomal  recessive  hypophosphatemic  rickets  (DMP1).In  hypophosphatemic  patients  without  such  mutations,  searching  for  a  tumor  causing  tumor-induced  osteomalacia  is  reasonable,  particularly  in  patients  with  bone  pain  or  fractures.Such  tumors  are  typically  small  and  may  be  located  anywhere,  so  they  are  best  localized  using  a  whole-body  DOTATATE-PET/CT  scan.For  patients  with  tumoral  hypophosphatemia,  resection  of  the  tumor  normalizes  serum  phosphate  levels,  but  about  20%  experience  recurrence,  usually  in  the  same  location.With  both  tumoral  and  genetic  FGF-23-related  hypophosphatemia,  therapy  with  burosumab  improves  osteomalacia.For  patients  who  cannot  take  burosumab  or  who  continue  to  have  hypophosphatemia,  oral  phosphate  supplements  must  be  given  long-term;  oral  phosphate  causes  diarrhea  at  higher  doses,  however,  so  many  patients  do  not  achieve  normal  serum  phosphate  levels.  Calcitriol,  0.25–0.5  mcg  daily  is  given  to  improve  the  impaired  calcium  absorption  caused  by  the  oral  phosphate.Patients  with  hypophosphatasia  may  be  treated  with  asfotase  alfa  (Strensiq).  Teriparatide  can  improve  bone  pain  and  fracture  healing.  Bisphosphonates  are  contraindicated.