DEMİR TEDAVİSİNE DİRENÇLİ DEMİR EKSİKLİĞİ ANEMİSİ:IRIDA

GİRİŞ: Dünya çapında demir eksikliği anemisi ciddi bir sağlık problemi olarak karşımıza çıkmaktadır. Nutrisyonel demir eksikliği anemisi ayırıcı tanısında talasemi ve diğer hemoglobinopatiler, gastrointestinal kanama, generalize intestinal malabsorbsiyonlar, kronik inflamatuar hastalıklar, kurşun zehirlenmesi ve sideroblastik anemi yer almaktadır. Ayırıcı tanılar dışlandıktan sonra oral demir tedavisine dirençli seyreden ve aile öyküsü olan olgularda yapılan genetik çalışmalar TMPRSS6 genindeki mutasyonların bu tabloya sebep olabileceğini göstermiştir. Bu tablo demir tedavisine dirençli demir eksikliği anemisi: IRIDA sendromu olarak isimlendirilmiştir. Oral demir tedavisine dirençli demir eksikliği anemisi tablosundaki 16 yaş kız hastada tanı ve tedavi yaklaşımını değerlendirmek istedik. Vaka: 16 yaş kız hasta; 6 aylıkken hipokrom mikrositer anemi (Hb:7.9 g/dl, Htc: %28.9 MCV:58.6 fl, ferritin:22 ng/ml, RBC:4.830/ul ) saptanarak, oral demir tedavisine rağmen anemisi devam etmesi üzerine Çocuk Hematoloji-Onkoloji polikliniğine yönlendirilmişti. Öz ve soygeçmişinde ek özellik olmayan hastanın fizik muayenesinde solukluk dışında özellik saptanmadı. Yapılan tetkikler sonucunda talasemi, gastrointestinal kanama, malabsorbsiyon, konjenital diseritropoetik anemi tanıları dışlandı. Oral demir tedavisi ile iyileşme görülmeyen hastaya IV demir tedavisine yanıt görüldü. Demir tedavisine dirençli demir eksikliği anemisi (IRIDA:Iron refractory iron deficiency anemia) sendromu düşünüldü. IRIDA genetiği gönderilen hastada TMPRSS6 geninde hastalık etkeni olabilecek c.1991A>C(p.Q664p) homozigot mutasyon saptandı. Oral sukrozomial demir desteği başlanan hastanın hipokrom mikrositer anemisi (Hb:10.1 g/dl, Hct:%33.4, MCV:63 fl, RBC:5.100/ul, ferritin:199 ng/ml) hafif düzeyde devam ediyor olup genetiği görülmesi sonrası tedaviye C vitamini eklenmiştir. SONUÇ: IRIDA genellikle oral demir tedavisine yanıt vermeyip parenteral demir tedavisine kısmi yanıt gösteren hipokrom mikrositer anemi kliniği ile kendini gösterir. Nadir görülen, otozomal resesif geçişli bir hastalıktır. TMPRSS6 gen mutasyonunun bu klinik ile ilişkili olduğu gösterilmiştir. IRIDA olgularında; orta düzeyde bir anemi( Hb:6-9 g/dl), ağır mikrositoz (MCV:45-65), düşük ya da normal ferritin ve yüksek hepsidin seviyeleri görülmektedir. Oral demir replasmanına rağmen düzelmeyen hipokrom mikrositer anemi ve demir parametreleri varlığında, diğer etyololojiler dışlandıysa IRIDA sendromu akılda tutulmalı, hastalar genetik incelemeye yönlendirilmelidir. Anahtar Kelimeler: hipokrom mikrositer anemi, dirençli demir eksikliği anemisi, IRID

Childhood trauma and treatment outcome in bipolar disorder

The aim of the present study was to investigate the potential influence of childhood trauma on clinical presentation, psychiatric comorbidity, and long-term treatment outcome of bipolar disorder. A total of 135 consecutive patients with bipolar disorder type I were recruited from an ongoing prospective follow-up project. The Childhood Trauma Questionnaire and the Structured Clinical Interview for DSM-IV Axis I Disorders were administered to all participants. Response to long-term treatment was determined from the records of life charts of the prospective follow-up project. There were no significant differences in childhood trauma scores between groups with good and poor responses to long-term lithium treatment. Poor responders to long-term anticonvulsant treatment, however, had elevated emotional and physical abuse scores. Lifetime diagnosis of posttraumatic stress disorder (PTSD) was associated with poor response to lithium treatment and antidepressant use but not with response to treatment with anticonvulsants. Total childhood trauma scores were related to the total number of lifetime comorbid psychiatric disorders, antidepressant use, and the presence of psychotic features. There were significant correlations between all types of childhood abuse and the total number of lifetime comorbid psychiatric diagnoses. Whereas physical neglect was related to the mean severity of the mood episodes and psychotic features, emotional neglect was related to suicide attempts. A history of childhood trauma or PTSD may be a poor prognostic factor in the long-term treatment of bipolar disorder. Whereas abusive experiences in childhood seem to lead to nosological fragmentation (comorbidity), childhood neglect tends to contribute to the severity of the mood episodes

Delayed initiation of clozapine may be related to poor response in treatment-resistant schizophrenia

The aim of this retrospective chart-review study was to investigate the relationship between delayed commencement of clozapine and the level of response in treatment-resistant schizophrenia (TRS). We included 162 patients with schizophrenia who used clozapine. The mean delay until starting clozapine after fulfillment of the TRS criteria was 29 months. The delay was shorter in those who gained benefit from clozapine (P=0.04), those who were treated in a specialized psychosis outpatient unit (P=0.01), and in men (P=0.009), and it correlated with age (P<0.001). The delay in starting clozapine and the maximum clozapine dose were independent contributors toward the response to clozapine in the logistic regression analysis. Moreover, of those who gained considerable benefit from clozapine, the patients were younger (P=0.01), the duration of illness before clozapine treatment was shorter (P=0.001), and the numbers of adequate antipsychotic trials before the use of clozapine were fewer (P=0.05). Our findings suggest that efforts aimed at reducing the delay for starting clozapine may increase the effectiveness of clozapine in TRS

Childhood trauma and treatment outcome in bipolar disorder

The aim of the present study was to investigate the potential influence of childhood trauma on clinical presentation, psychiatric comorbidity, and long-term treatment outcome of bipolar disorder. A total of 135 consecutive patients with bipolar disorder type I were recruited from an ongoing prospective follow-up project. The Childhood Trauma Questionnaire and the Structured Clinical Interview for DSM-IV Axis I Disorders were administered to all participants. Response to long-term treatment was determined from the records of life charts of the prospective follow-up project. There were no significant differences in childhood trauma scores between groups with good and poor responses to long-term lithium treatment. Poor responders to long-term anticonvulsant treatment, however, had elevated emotional and physical abuse scores. Lifetime diagnosis of posttraumatic stress disorder (PTSD) was associated with poor response to lithium treatment and antidepressant use but not with response to treatment with anticonvulsants. Total childhood trauma scores were related to the total number of lifetime comorbid psychiatric disorders, antidepressant use, and the presence of psychotic features. There were significant correlations between all types of childhood abuse and the total number of lifetime comorbid psychiatric diagnoses. Whereas physical neglect was related to the mean severity of the mood episodes and psychotic features, emotional neglect was related to suicide attempts. A history of childhood trauma or PTSD may be a poor prognostic factor in the long-term treatment of bipolar disorder. Whereas abusive experiences in childhood seem to lead to nosological fragmentation (comorbidity), childhood neglect tends to contribute to the severity of the mood episodes