Özet:

Fankonian Aplastic Anemia is a syndrome of bone marrow deficiency that is often autosomal, rarely associated with X, accompanied by congenital malformations (anormality of the headfinger in different styles, microsphaly, microftalmy, pigmentation changes in the skin, heart and kidney anomalies) and tends to malignity. This is a case that is not followed by the family after diagnosed at 1.5 years old. OLGU, 4.5 years old, was taken to the Meram Education Research Hospital with 112 with a brown vomiting complaint, a girl with fanconian aplastic anemia. The patient was rejected there in exchange for the signature and was brought to us at 20:50 with 112. During the patient's transplant, the vein was not opened and the blood pressure was not taken. From his story, it was learned that after a brown vomiting that began today, he breathed quickly. The patient, who was in general bad condition, was opened in the vascular tract and 100 cc serum was physiological charged in 5 minutes. Nazogastrik was then stuck. They went on in an untouchable form. The general condition of the patient in the physical examination is bad, the skin color is breathing, the limbs are brown(evre 3 shock) ,dismorphic face appearance is available, the right outer ear path is atresic, body temperature: 35.2°C, pulse: 90/min, TA: not taken, breathing sounds are crude, deep inspired, breathing number:30, Spo2: not measured. There is no organomegali in the West. Both hands had no headfingers, the bilateral arms were in radial deviation and the right and left front arms were short. The patient who breathed was superficial. The patient who was not able to take a heart rate was initiated a cardiopulmonary resuscitation (21:15). One adrenaline was made in three minutes. The blood gas received before the intervention resulted in ph:6,762 pCO2:25,8 pO2:55,3 HCO3:3,9. He was interviewed by telephone with the laboratory for the full blood count. It was found that the device was unable to work because the hemoglobin and thrombocytes were very low. Bicarbonate is supported. If the pulse was controlled, it was seen as a rhythm assistoli. 45 minutes of cardiopulmonary resuscitation was continued. At 22:00 a.m. my heart rate was checked. The ekg was withdrawn. The patient with asystoli, without a heart rate, was accepted exitus. Fankonian aplastic anemia is one of the hematological diseases that require close monitoring. In addition to routine tracking, infections, blood clots associated with low levels of thrombocytes, accompanying cardiovascular or kidney anomalies also significantly affect the course of the disease. At the advanced periods of the disease should be cautious with regard to the development of myelodisplasia or leukemia. In the event of one or one specific clonal or morphological abnormalities per year, it is necessary to perform FISH analysis for cytogenetic abnormalities that may be predictive for cytology, cytogenetics and leukemia with bone marrow aspiration more frequently (3p26q29 amplification and 7q division). Biopsy of the bone marrow should be done for cellularity. The patient’s full blood count should be monitored. If the cytopenies are mild to medium and there is no cytogenetic anomaly, the full blood count should be done every 3-4 months and the bone marrow aspiration should be done every year. If there is a cytogenetic anomaly with cytopene or if there is a manifest dysplasia without the development of open MDS, the full blood count should be done once every 1-2 months, and the bone marrow aspiration should be done once every 1-6 months. The family of patients who wish to have a child again and who are concerned should also be informed about the prenatal diagnosis and preimplantation genetic diagnosis. Our case was first, in 2017, from the external center to us with a pre-diagnosis of Fankoni Aplastic Anemia. During the bed, bone marrow aspiration and bone marrow biopsy were performed. The patient with a left kidney agenesis was also traced to the infant nefrology tracking. The patient was not regularly checked. The patient, who returned to the service in 2017, has not later applied to us. When he appeared to the emergency clinic, the general condition was bad, the breathing was surface, the limbs were cold and breathing. Sitopenia was very high. Fankoni aplastic anemia is a disease that requires regular follow-up in this regard and needs to be planned early treatment. Clinical tracking is very important in terms of mortality.