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.

Öz

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.

Anahtar Kelimeler

• Child
• myelofibrosis
• rickets

Kaynakça

1. 1. Özkan B. Nutritional rickets in Turkey. Eurasian J Med 2010;42:86-91. https://doi.org/10.5152/eajm.2010.24
2. 2. Özkan B. Rickets. J Curr Pediatr 2007;5:34-41.
3. 3. Özkan B. Nutritional rickets-review. J Clin Res Pediatr Endocrinol 2010;2:137-143. https://doi.org/10.4274/jcrpe.v2i4.137
4. 4. Gökçay G. Avitaminoz ve hipervitaminozlar. In: Neyzi O, ed. Pediyatri. 4rd ed. İstanbul: Nobel Matbaacılık, 2010;265-276.
5. 5. Yetgin S, Ozsoylu S, Ruacan S, Tekinalp G, Sarialioğlu F. Vitamin D-deficiency rickets and myelofibrosis. J Pediatr 1989;114:213-217. https://doi.org/10.1016/s0022-3476(89)80785-1
6. 6. Naithani R, Tyagi S, Choudhry VP. Secondary myelofibrosis in children. J Pediatr Hematol Oncol 2008;30:196-198. https://doi.org/10.1097/MPH.0b013e318161a9b8
7. 7. Visnjic D, Kalajzic Z, Rowe D, Katavic V, Lorenzo J, Aguila HL. Hematopoiesis is severely altered in mice with an induced osteoblasts deficiency. Blood 2004;103:3258-3264. https://doi.org/10.1182/blood-2003-11-4011
8. 8. Burnand B, Sloutskis D, Gionali F, et al. Serum 25-hydroxyvitamin D: distribution and determinants in Swiss population. Am J Clin Nutr 1992;56:537-542. https://doi.org/10.1093/ajcn/56.3.537

9. 9. Stéphan JL, Galambrun C, Dutour A, Freycon F. Myelofibrosis: an unusual presentation of vitamin D-deficient rickets. Eur J Pediatr 1999;158:828-829. https://doi.org/10.1007/s004310051215
10. 10. Rao DS, Shih MS, Mohini R. Effect of serum parathyroid hormone and bone marrow fibrosis on the response to erythropoeitin in uremia. N Engl J Med 1993;328:171-175. https://doi.org/10.1056/NEJM199301213280304
11. 11. Abdelwahab TH Elidrissy. Myelofibrosis associated with rickets, is it hyperparathyroidism, the triggering agent or vitamin D and hypocalcemia or hypophosphatemia. Int J Clin Endocrinol Metab 2016;2:19-23. https://doi.org/10.17352/ijcem.000017
12. 12. Yönal I, Sargın FD. Primer miyelofibrozis: patogenez, teşhis ve tedavide güncel bilgiler. İst Tıp Fak Derg 2014;77:74.
13. 13. Balasubramanian S, Varadharajan R, Ganesh R, Shivbalan S. Myelofibrosis and vitamin D deficient rickets-a rare association. Indian Pediatr 2005;42:482-484.