Abstract
iki aylık erkek hasta ateş ve huzursuzluk yakınmaları ile başvurdu. Anne-baba arasında üçüncü dereceden akrabalık öyküsü olan hastanın büyük erkek kardeşinin osteopetrozis tanısı aldığı ve 2 yaşında öldüğü öğrenildi. Laboratuvar incelemesinde hastanın hemoglobini 6.3 gr/dl, beyaz küre sayısı 4150/mm3, trombosit sayısı 120.000/mm3, plazma kalsiyum düzeyi 6.1 mg/ dl, fosfor 2.9 mg/dl ve alkalen fosfataz 1398 IU/L idi. Parathormon düzeyi yüksekliği (295 pg/ml) ve anlamlı derecede azalmış idrar Ca/cre (0.2) ile birlikte 25-OH vitamin D düzeyi normaldi. Kemik grafilerinde, kemik dansitesinde jeneralize artış, radius ve ulna distal epifizlerinde çanaklaşma mevcuttu. Radyografik ve laboratuvar bulguları ile hastada raşitizm ve osteopetrozis birlikteliği düşünüldü. Hastanın takibinde hipokalsemiye bağlı konvülsiyonları gelişti. Parenteral kalsiyum glukonatla (100 mg/ kg/doz) birlikte 2000 IU (düşük doz) vitamin D tedavisi bir hafta süreyle verilip, daha sonra 400 IU günlük D vitamini ile devam edildi. Düşük doz, kısa süreli vitamin D tedavisinden sonra hipokalsemi düzeldi ve ulnada sekonder kalsifikasyon hattı gözlendi.
Paradoxical Relation of Osteopetrosis and Rickets
A 2-month-old boy was presented with fever and restlessness. He was the third child of consanguineous parents and born after a full-term uncomplicated pregnancy. His older brother had been diagnosed as osteopetrosis and died when he was 2 years old. In laboratory findings his hemoglobin was 6.3 gr/dL, white blood count 4150/mm3, platelet count 120.000/mm3, calcium level was 6.1 mg/dL, phosphorus 2.9 mg/dL and alkaline phos-phatase 1398 IU/L. Parathormone level was high (295 pg/mL), urine Ca/cre (0.2) was significantly decreased with normal 25 hydroxyvitamin D level. Examinatin of bones revealed generalized increased bone density, cupping of the distal epiphyses in the radius and ulnae. Radiographic and laboratory findings were compatible with osteopetrosis and rickets. He had seizure because of hypocalcemia. 2000 IU (low dose) vitamin D was given for one week period with parenteral calcium gluconat (100 mg/kg/dose) and thereafter 400 IU vitamin D was continued daily. After treatment of low dose-short period vitamin D, hypocalcemia improved, and secondary calcification was shown in ulnae by X-Ray
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| Primary Language | English |
|---|---|
| Journal Section | Basic Medical Sciences |
| Authors | |
| Publication Date | December 31, 2009 |
| Submission Date | October 30, 2009 |
| Published in Issue | Year 2004 Volume: 21 Issue: 4 |
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