Familial hypophosphatemic rickets: report of a case
Keywords:
Familial Hypophosphatemic Rickets (FHR), sporadic type
Abstract
Familial Hypophosphatemic Rickets (FHR) wasfound 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.
References
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hypophosphatemic rickets [abstract]. Clin Endocrinol
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to diagnose, difficult to treat [abstract]. Indian J Pediatr
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patient who has rickets. Pediatr Rev 2000;21:849-6.
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associated with renal tubular acidosis in children with
x-linked hypophosphatemia. Pediatrics 1996;97:91-3.
Trihono PP, editors. Buku ajar nefrologi anak jilid II.
Jakarta: BP-FKUI; 1999. p .426-45.
2. Lum GM. Kidney and urinary tract. In: Hay WW,
Groothuis JR, Hayward AR, Levin MJ, editors. Cur-
rent pediatric diagnosis and treatment. 13 th ed. Con-
necticut: Appleton and Lange; 1997. p. 607-30.
3. Glorieux FH, Chabot G, Tau C. Familial
hypophosphatemic rickets: pathophysiology and medi-
cal management. In: Glorieux FH, editor. Rickets. New
York: Raven Press; 1991. p. 185-202.
4. Chesney RW. Familial hypo-phosphatemia. In: Nelson
WE, Behrman RE, Kliegman RM, Arvin AM, edi-
tors. Textbook of pediatrics. Philadelphia: Saunder;
1996. p. 1986-7.
5. Brewer E. 2001. Personal communication.
6. Guyton AC. Human physiology and mechanisms of dis-
ease. 3 rd ed. Philadelphia: Saunder; 1991. p. 711-27.
7. Alatas H. Anatomi dan fisiologi ginjal. In: Alatas H,
Tambunan T, Trihono PP, editors. Buku ajar nefrologi
anak jilid I. Jakarta: BP – FKUI; 1993. p. 1-31.
8. Gertner JM. Rickets and other disorder of vitamin D
and phosphate metabolism. In: Lifshitz F, editor. Pedi-
atric endocrinology. New York: Marcel Dekker; 1996.
p. 507-20.
9. Cameron FJ, Sochett EB, Daneman A, Kooh SW. A
trial of growth hormone therapy in well - controlled
hypophosphatemic rickets [abstract]. Clin Endocrinol
1999;5:577-82.
10. Garg RK, Tandon N. Hypophosphatemic rickets: easy
to diagnose, difficult to treat [abstract]. Indian J Pediatr
1999;6:849-57.
11. Ozuah PO, Adam HM. Planning the treatment of a
patient who has rickets. Pediatr Rev 2000;21:849-6.
12. Seikaly M, Browne R, Baum M. Nephrocalcinosis is
associated with renal tubular acidosis in children with
x-linked hypophosphatemia. Pediatrics 1996;97:91-3.
Published
2016-10-10
How to Cite
1.
Tehuteru E, Tambunan T. Familial hypophosphatemic rickets: report of a case. PI [Internet]. 10Oct.2016 [cited 23Dec.2024];43(2):70-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/662
Section
Case Report
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Received 2016-09-22
Accepted 2016-09-22
Published 2016-10-10
Accepted 2016-09-22
Published 2016-10-10
