Smaller onset age and onset of symptoms during breastfeeding were found associated with early tolerance development. In the majority of the patients, FPIAP resolves before the age of one year, however in some of the patients this duration may be much longer.

BackgroundCitrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today.Case presentationWe reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia.ConclusionsTwo different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.

Background. Today, as a result of an increase in the frequency of food protein-induced allergic proctocolitis (FPIAP), there is a need for studies not only to enlighten the pathophysiology of the disease but also to determine simple, non-invasive markers in both diagnosis, and evaluation of the development of tolerance. No study has been found in the literature about the place of neutrophil/lymphocyte ratio (NLR) and mean platelet volume (MPV), which are easy to calculate and non-invasive markers. Objectives. The purpose is to determine the relation between NLR and MPV with the diagnosis and development of tolerance in children with FPIAP. Methods. In this retrospective cross-sectional study, clinical, demographic symptoms and laboratory findings of patients, monitored with FPIAP diagnosis in allergy and gastroenterology clinics, were acquired from the patient record system. Hemogram values at the time of diagnosis were compared with the values of healthy children of the same age and gender. Results. Among 59 patients diagnosed with FPIAP, males constitute 47.4% and females constitute 52.6%. MPV and platelet crit (PCT) values were significantly high when compared to the control group (n: 67) in FPIAP cases (p <0.001). Also, MPV and PCT values were significantly high in non-tolerance developing cases when compared to developing ones (p= 0.01). Conclusions. Contrary to NLR, MPV and PCT values have been considered to be good markers in predicting prognosis in cases with FPIAP since they are quick, cost effective and easy to calculate.

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