- Hypophosphatemic nephrolithiasis and osteoporosis are a category of rare diseases where kidney stones and skeletal abnormalities can occur together due to low phosphate levels in the blood.
- Hypophosphatemia related to this disease can occur when there is excessive loss of phosphate in the kidneys or when genetic or metabolic abnormalities arise.
- When phosphate regulation is disrupted, normal mineralization and strength of the bones may decrease, and changes in urine can affect the formation of kidney stones.
- Symptoms such as kidney stones or urinary tract symptoms, bone pain, decreased bone density, risk of fracture, fatigue, and muscle weakness may occur.
- Symptoms and severity may vary depending on the age of onset, genetic background, degree of phosphate loss, diet and medications, kidney function, and comorbidities.
- The clinical course ranges from asymptomatic laboratory abnormalities to recurrent kidney stones and persistent bone pain and fractures; prolonged hypophosphatemia can place a burden on the skeleton.
- When diagnosing, blood phosphate and kidney function, urinary phosphate and stone-related findings, and skeletal and bone density tests are comprehensively evaluated along with investigating the causes of hypophosphatemia.
- Since it is difficult to make a determination based on a single phosphate level or bone density result alone, hydration status, diet, medications, kidney function, and other causes of hypophosphatemia must be interpreted together.
- Management focuses on controlling phosphate abnormalities, preventing the recurrence of kidney stones and kidney damage, and long-term monitoring of bone health, underlying diseases, and complications.
- Treatment combines phosphate supplementation, metabolic regulation, stone management, and osteoporosis management depending on the cause and symptoms, and the same treatment is not required for everyone.