Abstract
X-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.
Key words
inherited disorders - rare disease - PHEX gene mutation - adult
