P-23 MANAGEMENT OF X-LINKED HYPOPHOSPHATEMIC RICKETS IN A YOUNG MALE PATIENT
Introduction
X-linked hypophosphatemic rickets (XLH) is a rare genetic disorder characterized by phosphate wasting, leading to rickets in children and osteomalacia in adults. We present the case of a 21-year-old male diagnosed with XLH, highlighting the clinical features, diagnostic approach, and management strategies employed.
XLH is the most common form of heritable rickets, caused by mutations in the PHEX gene. It manifests as rickets in children and osteomalacia in adults, accompanied by bone pain, muscle weakness, and skeletal deformities. We discuss a case emphasizing the importance of early diagnosis and comprehensive management.
Clinical Case
Mr. AH, a 21-year-old single, non-smoking male, presented with bowing of the legs and was found to have elevated urine phosphate levels. Laboratory tests revealed a calcium level of 9.3 mg/dL, phosphate level of 2.19 mg/dL, parathyroid hormone (PTH) level of 20.98 pg/mL, and vitamin D was not evaluated at the time of presentation. His stature was notably short for his age, with a height of 130 cm and a weight of 50 kg. Blood pressure was recorded at 130/70 mmHg.
The patient's clinical presentation, alongside laboratory findings indicative of hypophosphatemia, elevated urine phosphate, and an inappropriately normal PTH level, led to the diagnosis of XLH. The diagnosis was further supported by the characteristic skeletal deformities observed.
Initially, the patient was managed with phosphate supplements and active vitamin D analogs. Specifically, he was prescribed Zoledronic acid (Zometa) 4mg injection, One Alpha (alfacalcidol) 0.25 mcg tab leo minepharma 2x2, and Diabase tab (calcitriol) 50000 IU weekly. This treatment regimen aimed to correct the hypophosphatemia, improve bone mineralization, and ameliorate the clinical symptoms.
Managing XLH necessitates a multidisciplinary approach, focusing on correcting phosphate levels, supplementing vitamin D, and addressing skeletal deformities. Zoledronic acid, an antiresorptive agent, along with phosphate and vitamin D supplementation, can effectively manage these aspects. However, monitoring for complications such as nephrocalcinosis is crucial.
Conclusion
This case underscores the complexities of diagnosing and managing XLH. Early intervention and a tailored therapeutic strategy are pivotal in improving patient outcomes, highlighting the necessity for awareness and understanding of this rare condition among clinicians.