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...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Indonesian Pediatric Society Publishing House
2016-10-01
|
| Series: | Paediatrica Indonesiana |
| Subjects: | |
| Online Access: | https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/662 |
| _version_ | 1818790562659041280 |
|---|---|
| author | Edi S Tehuteru Taralan Tambunan |
| author_facet | Edi S Tehuteru Taralan Tambunan |
| author_sort | Edi S Tehuteru |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-18T14:57:26Z |
| format | Article |
| id | doaj.art-c0749b59220e4127aeb059cd1efa5437 |
| institution | Directory Open Access Journal |
| issn | 0030-9311 2338-476X |
| language | English |
| last_indexed | 2024-12-18T14:57:26Z |
| publishDate | 2016-10-01 |
| publisher | Indonesian Pediatric Society Publishing House |
| record_format | Article |
| series | Paediatrica Indonesiana |
| spelling | doaj.art-c0749b59220e4127aeb059cd1efa54372022-12-21T21:04:00ZengIndonesian Pediatric Society Publishing HousePaediatrica Indonesiana0030-93112338-476X2016-10-0143270210.14238/pi43.2.2003.70-2529Familial hypophosphatemic rickets: report of a caseEdi S TehuteruTaralan TambunanFamilial 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.https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/662Familial Hypophosphatemic Rickets (FHR)sporadic type |
| spellingShingle | Edi S Tehuteru Taralan Tambunan Familial hypophosphatemic rickets: report of a case Paediatrica Indonesiana Familial Hypophosphatemic Rickets (FHR) sporadic type |
| title | Familial hypophosphatemic rickets: report of a case |
| title_full | Familial hypophosphatemic rickets: report of a case |
| title_fullStr | Familial hypophosphatemic rickets: report of a case |
| title_full_unstemmed | Familial hypophosphatemic rickets: report of a case |
| title_short | Familial hypophosphatemic rickets: report of a case |
| title_sort | familial hypophosphatemic rickets report of a case |
| topic | Familial Hypophosphatemic Rickets (FHR) sporadic type |
| url | https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/662 |
| work_keys_str_mv | AT edistehuteru familialhypophosphatemicricketsreportofacase AT taralantambunan familialhypophosphatemicricketsreportofacase |