Göçmen bir hastada nutrisyonel rikets ve nadir klinik yansıması: myelofibrozis

Öz

Rikets; epifizyal büyüme plağının yetersiz mineralizasyonu sonucu oluşan ve nadiren miyelofibrozise sebep olabilen bir hastalıktır. Sekiz aylık mülteci bir kız hasta, ateş ve solukluk şikâyeti ile başvurdu. Hastanın; bilateral krepitan ralleri vardı, karaciğeri 2-3 cm, dalağı 7 cm palpe ediliyordu. El bileği kemikleri geniş, kraniotabes ve raşitik rozaryleri mevcuttu. Beyaz küresi: 36.000/mm³, hemoglobini: 6 g/dl ve trombositi: 50.000/mm³ idi. Periferik yaymasında; yaygın normoblastlar ve myeloid seri öncülleri görüldü. Kalsiyumu: 8,8 mg/dl, fosforu: 1,0 mg/dl, alkalen fozfatazı: 4099 U/L, D vitamini düzeyi: 5,12 ng/ml ve paratiroid hormonu: 1364 pg/mL idi. Akciğer grafisinde; bilateral parakardiyak infiltrasyonları ve el bilek grafisinde; kadehleşme görüntüsü mevcuttu. Kemik iliği değerlendirmesi; bazı normoblast çekirdeklerinde görülen anormal lobülasyonlar dışında normaldi. Aile onam vermediği için kemik iliği biyopsisi yapılamadı. 4000 IU/gün oral D vitamini ile yaklaşık bir ay sonra hastanın tüm hemogram değerleri ve periferik yayması tamamen düzeldi. Son kalsiyumu: 9,6 mg/dl, fosforu: 4,6 mg/dl, alkalen fozfatazı: 487 U/L, 25-hidroksi vitamin D düzeyi: 8,8 ng/ml ve parathormonu: 122 pg/mL idi. Son yıllarda yoğun göç alan ülkemizde rikets vakalarında artış muhtemeldir. Bu vakaların myelofibrozis gibi nadir, hayatı tehdit edebilen ve tedavi ile tamamen geri dönebilen klinik yansımaları ile karşımıza çıkabileceği unutulmamalıdır.

Anahtar Kelimeler

• çocuk
• myelofibrozis
• rikets

Nutritional rickets in a refuge patient and its rare clinical reflection: myelofibrosis.

Abstract

Abstract: Rikets; it is a disease that occurs as a result of insufficient mineralization of the epiphyseal growth plate and can rarely cause myelofibrosis. An eight-month-old refugee girl presented with fever and paleness. She had bilateral crepitant rales, her liver was 2-3 cm and her spleen was 7 cm palpable. Craniotabes, widening of the wrists and rachitic rosaries were prominent. White blood cell was 36.000/mm³, hemoglobin was 6 g/dl and thrombocyte was 50.000/mm³. In peripheral smear; numerous normoblasts and myeloid series precursors were seen. Calcium: 8.8 mg/dl, phosphorus: 1.0 mg/dl, alkaline phosphatase: 4099 U/L, vitamin D level: 5.12 ng/ml and parathyroid hormone: 1364 pg/mL. In chest radiography; bilateral paracardiac infiltrations was noted and wrist radiography showed cupping and fraying of the distal Radius and ulna. Bone marrow assessment; it was normal except for abnormal lobulations seen in some normoblast nuclei. Bone marrow biopsy could not be performed because the family did not give consent. Approximately one month later, with 4000 IU/day oral vitamin D, all hemogram values and peripheral smear of the patient completely recovered. Final calcium: 9.6 mg/dl, phosphorus: 4.6 mg/dl, alkaline phosphatase: 487 U/L, 25-hydroxy vitamin D level: 8.8 ng/ml, and parathyroid hormone: 122 pg/mL. An increase in rickets cases is likely in our country, which has received intense immigration in recent years. It should be kept in mind that these cases may present with rare, life-threatening clinical manifestations such as myelofibrosis, which can be completely reversed with treatment.

Keywords

• Child
• myelofibrosis
• rickets

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