Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female
Joint Authors
Mualla, Hala
Bae, Su Ah
Yaqub, Abid
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-03-04
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
We describe a presentation of Autosomal Dominant Hypophosphatemic Rickets (ADHR) in a 22-year-old female with normal pubertal growth and development and a negative family history in first-degree relatives.
The patient presented with a 2-year history of upper and lower extremity proximal muscle pain and weakness and bilateral femoral neck and pubic bone insufficiency fractures.
She had a normal serum calcium but a low phosphate as well as 25-hydroxyvitamin D (25(OH)D) levels leading initially to a diagnosis of osteomalacia.
Urine phosphate reabsorption was low confirming a phosphate wasting disorder.
She had an elevated Fibroblast Growth Factor 23 (FGF23) level.
After Tumor-Induced Osteomalacia was ruled out by extensive imaging, she was sent for genetic testing for hereditary rickets which showed a previously reported missense variant in FGF23.
Subsequently, she found out that her father’s maternal aunt and grandfather had ‘bone disorder’ and were wheelchair-bound in adulthood.
After replenishment of vitamin D, treatment with calcitriol and phosphate leads to complete resolution of patient’s symptoms and laboratory abnormalities.
American Psychological Association (APA)
Mualla, Hala& Bae, Su Ah& Yaqub, Abid. 2019. Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female. Case Reports in Endocrinology،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1135845
Modern Language Association (MLA)
Mualla, Hala…[et al.]. Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female. Case Reports in Endocrinology No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1135845
American Medical Association (AMA)
Mualla, Hala& Bae, Su Ah& Yaqub, Abid. Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female. Case Reports in Endocrinology. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1135845
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1135845