Hypophosphatemic rickets, also known as familial hypophosphatemia or renal hypophosphatemic rickets, is characterized by low blood phosphorus, rickets, and unresponsiveness to vitamin D therapy alone. The disease is hereditary and can be inherited either sex chromosomally or autosomally. Blood phosphorus is reduced and bone calcium and phosphorus deposition is impaired because of reduced renal tubular reabsorption of phosphorus and intestinal calcium and phosphorus malabsorption. It is more common in girls with mild symptoms and less common in boys with severe symptoms. (1) Blood phosphorus is reduced, often <0.97 mmol/L, blood alkaline phosphatase is elevated, blood calcium is normal or slightly reduced, blood parathyroid hormone secretion is normal, urinary phosphorus is increased, and renal tubular phosphorus recovery rate is reduced, often <85%. (2) Skeletal X-ray shows rickets-like bone changes, with a widened, brush-like epiphysis, sparse bone trabeculae, and thin bone cortex. This disease should be differentiated from vitamin D deficiency rickets, vitamin D-dependent rickets, and renal tubular acidosis, and requires appropriate investigations and treatment, such as blood gas electrolyte analysis, urine routine, photographs of one long bone, blood calcium, blood phosphorus, urinary calcium, urinary phosphorus, and bone alkaline phosphatase. Therefore, if rickets is present and conventional vitamin D treatment is ineffective or has poor results, the assistance of a specialist in endocrinology and metabolism should be sought as soon as possible to avoid delays. The main alternative treatment for this disease includes oral phosphate combination and supplementation with hydroxylated vitamin D, but it must be applied under the guidance of a physician.