Familial hypophosphatemic rickets: report of a case

Main Article Content

Edi S Tehuteru
Taralan Tambunan

Abstract

Familial Hypophosphatemic Rickets (FHR) was
found for the first time by Albright in 1937 and
is also called vitamin D resistant rickets. 1-3 It is
a disease that can occur through x-linked dominant,
autosom dominant, and sporadic inheritance. 1-4
Albright found that most FHR is x-linked dominant
type. 3 To distinguish between x-linked dominant and
autosom dominant, the family pedigree can not be
used, because it may look alike. Usually this disease
can be distinguished genetically. The gene that is
responsible for x-linked dominant is located in Xp21
while for autosom dominant is in 12p13. 4 Sporadic
type can easily be distinguished from the other two.
In the family pedigree, there is no other FHR patient
besides the patient himself. 3,4 The case that we are
about to report was a sporadic type FHR.

Article Details

How to Cite
1.
Tehuteru E, Tambunan T. Familial hypophosphatemic rickets: report of a case. PI [Internet]. 10Oct.2016 [cited 19Nov.2019];43(2):70-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/662
Section
Case Report
Author Biographies

Edi S Tehuteru

Department of Child Health, Medical School, University of
Indonesia, Cipto Mangunkusumo Hospital, Jakarta.

Taralan Tambunan

Department of Child Health, Medical School, University of
Indonesia, Cipto Mangunkusumo Hospital, Jakarta.
Received 2016-09-22
Accepted 2016-09-22
Published 2016-10-10

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