Familial hypophosphatemic rickets: report of a case
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 typ...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Published: |
Indonesian Pediatric Society Publishing House,
2016-10-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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. |
|---|---|
| Item Description: | 0030-9311 2338-476X 10.14238/pi43.2.2003.70-2 |