X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature

Author:

Abdullah Shadan Jabbar1,Mahwi Taha Othman2,Mohamad Salih Saeed Areewan3,Abdulateef Darya Saeed4ORCID,Rahman Heshu Sulaiman5,Ahmed Shaho Fatah1,Abdulqader Sarkan Ahmed6

Affiliation:

1. Endocrine Unit, Internal Medicine, Shar Hospital, Sulaymaniyah, Kurdistan region, Iraq

2. Medicine, University of Sulaimani College of Medicine, Sulaymaniyah, Kurdistan region, Iraq

3. Surgery, University of Sulaimani College of Medicine, Sulaymaniyah, Kurdistan region, Iraq

4. Medical Education, University of Sulaimani College of Medicine, Sulaymaniyah, Kurdistan region, Iraq

5. Physiology, University of Sulaimani College of Medicine, Sulaymaniyah, Kurdistan region, Iraq

6. Orthopedic Surgery Unit, Shar Hospital, Sulaymaniyah, Kurdistan region, Iraq

Abstract

AbstractX-linked hypophosphatemia (XLH) associated with short stature during childhood are mostly referred to the hospital and diagnosed as vitamin D deficiency rickets and received vitamin D before adulthood. A case is presented with clinical features of hypophosphatemia from childhood who did not seek medical care for diagnosis and treatment, nor did his mother or two brothers, who have short statures, bone pain, and fractures. The patient was assessed for sociodemographic, hematological, and biochemical parameters together with a genetic assessment. A DEXA scan and X-ray were done to determine the abnormalities and deformities of joints and bones despite clinical examination by an expert physician. All imaging, laboratory parameters, and the genetic study confirmed the diagnosis of XLH. A detailed follow-up of his condition was performed after the use of phosphate tablets and other treatments. X-linked hypophosphatemia needs a good assessment, care, and follow up through a complementary medical team including several specialties. Phosphate tablets in adulthood significantly affects clinical and physical improvement and prevention of further skeletal abnormality and burden on daily activity. The patients should be maintained with an adequate dose of phosphate for better patient compliance. More awareness is needed in society and for health professionals when conducting medical checkups during the presence of stress fractures, frequent dental and gum problems, rickets, short stature, or abnormality in the skeleton or walking to think of secondary causes such as hypophosphatemia. Further investigations including a visit to a specialist is imperative to check for the primary cause of these disturbances.

Publisher

Georg Thieme Verlag KG

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,General Medicine,Endocrinology, Diabetes and Metabolism

Reference56 articles.

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