Osteopetrozis ve Raşitizmin Paradoksal Birlikteliği:Olgu Sunumu

Authors : M AKBALIK, T FIŞGIN, M KILIÇ, M AYDIN, F DURU, D ALBAYRAK

Pages : 0-0

Doi:10.5835/jecm.v21i4.96

View : 42 | Download : 14

Publication Date : 2009-12-31

Article Type : Other Papers

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 insert ignore into journalissuearticles values(295 pg/ml); ve anlamlı derecede azalmış idrar Ca/cre insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(100 mg/ kg/doz); birlikte 2000 IU insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(295 pg/mL);, urine Ca/cre insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(low dose); vitamin D was given for one week period with parenteral calcium gluconat insert ignore into journalissuearticles values(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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