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[Hypophosphatemic rickets].

W Kołłataj¹, E Szewczyk

¹Klinika Pediatrii, Endokrynologii i Chorób Młodziezy AM w Lublinie.

Przeglad Lekarski

|July 25, 2000

Summary

This summary is machine-generated.

Late diagnosis of X-linked hypophosphataemia in a child led to severe deformities. Early detection and treatment are crucial for preventing developmental issues and bone deformities in this rare genetic disorder.

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Area of Science:

Pediatrics
Genetics
Endocrinology

Background:

X-linked hypophosphataemia is a rare genetic disorder causing rickets.
Delayed diagnosis can lead to significant physical development retardation and severe limb deformities, often requiring surgical intervention.

Observation:

A 5-year-old girl presented with classic symptoms of X-linked hypophosphataemia, including short stature and leg deformities, but was misdiagnosed for three years.
Despite abnormal growth parameters (height/weight <3rd percentile) and radiographic evidence of bone abnormalities, diagnosis was delayed.
Laboratory findings revealed severe hypophosphataemia, normal vitamin D levels, and elevated alkaline phosphatase, consistent with rickets.

Findings:

The patient exhibited severe hypophosphataemia (PO4- 0.7-0.78 mmol/l) and normal serum calcium levels.

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Reduced 1 alpha 25(OH)2D and elevated PTH levels were noted, alongside high alkaline phosphatase (ALP 401 U/l).

Renal phosphate wasting was indicated by tubular reabsorption of phosphate (TRP) at 69.1% and abnormal 24-hour urine phosphate excretion.

Implications:

This case highlights the critical need for timely diagnosis of X-linked hypophosphataemia to prevent severe skeletal deformities.
Early intervention can potentially avoid the need for corrective surgery and improve long-term outcomes.
Increased awareness among healthcare providers is essential for recognizing subtle clinical and laboratory signs of this rare condition.