Fanconi anemisi tanılı hastalarda idrar deoksipridinolin düzeyinin değerlendirilmesi

Fanconi anemia (FA) is a hereditary progressive bone marrow failure syndrome and patients may have various endocrinological problems. In this study, we aimed to determine the rate osteopenia/osteoporosis in patients with FA below 18 years-old and tested the use of urinary deoxypyridinoline for this purpose in comparison with bone mineral densitometry (DEXA) measurements. Seventeen DEB positive FA patients (females/male; 9/8, mean age; 10.6±3.5 years (5-17)) were evaluated with urinary deoxypyridinoline and DEXA measurements from L2-L4. The Z score of DEXA were corrected according to body surface area, age and gender. Urinary deoxypyridinoline was found 17.6±10.5 nMDPD/mM (range among FA: 4.5-47.5, normal range for healthy group: 3-7.4). The mean corrected Z score values were -1.45±1.2 (+0.51 to -4.22). Eight (47%) were found to be osteopenic (Z score -1 to -2.5) and 3 (18%) had osteoporosis (Z score below -2.5). All of the patients who had osteopenia or osteoporosis had urinary deoxypyridinoline above the normal limits. Of the 6 patients with normal Z scores, 4 (66.6%) had deoxypyridinoline levels above the normal range. Osteopenia/osteoporosis is a common problem in pediatric and adolescent patients with FA (64.7% via DEXA in our study). Urinary deoxypyridinoline is found to effectively catch the patients who are osteopenic/osteoporotic in consistence with DEXA. In 66.6% of patients with normal DEXA levels, the urinary deoxypyridinoline levels were higher than normal and this may indicate that urinary deoxypyridinoline can detect the bone mineral density decline earlier than DEXA.