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Intolerance of gluten containing cereals (wheat, rye, and barley) is an etiopathogenetically heterogeneous and relatively common problem of modern man. It occurs as an adverse immune-mediated condition in genetically predisposed individuals. According to the pathogenetic mechanism of intolerance to the components of these cereals, it is classified into celiac disease as an autoimmune disease, wheat allergy as an allergic disease, and non-celiac gluten sensitivity as a non-autoimmune and non-allergic disease. Each of these disorders is characterized by specific intestinal and/or extraintestinal manifestations, which resolve on a gluten-free diet. This review article presents the basic characteristics of these disorders in accordance with modern knowledge.

Celiac disease is a multisystemic autoimmune disease induced by gluten in wheat, rye, and barley. It is characterized by polygenic predisposition, prevailing prevalence in members of the white population (1%), especially in close relatives (5–15%), very heterogeneous expression and frequent association with other autoimmune diseases (3–10%), as well as selective deficiency of IgA and Down, Turner, and Williams syndromes. The basis of the disease and the key finding in its diagnostics is gluten-sensitive enteropathy, i.e., non-specific inflammation of the small intestinal mucosa which resolves by gluten-free diet. In addition to enteropathy, whether symptomatic or asymptomatic, the disease is also characterized by various extraintestinal manifestations, and even very serious complications. Therapy is based on a lifelong glutenfree diet, so that the disorder, if diagnosed in time and treated consistently, has an excellent prognosis.

Introduction/Objective. Benign transient hyperphosphatasemia (BTH) is a pathogenetic insufficiently clear clinical entity that is mostly seen in infants and young children. The objective of this paper is to present our experience regarding the age of occurrence, the conditions of the discovery, and the length of duration of BTH in children. Methods. The study was realized on a sample of 18 children, nine boys and nine girls, aged 10–42 (21.06 ± 9.35) months with BTH. The diagnosis of BTH is based on the absence of bone and hepatobiliary diseases, and its spontaneous disappearance over the course of several months. Results. One patient was in the first year, 13 in the second, three in the third, and one in the fourth. Isolated high activity of serum alkaline phosphatase, which was 2.04–21.9 (8.05 ± 5.31) times above the upper reference value for the corresponding age, in 14 cases it was found during the acute diarrhea, and in four with acute rhinopharyngitis, of which in two complicated with otitis media. The cause of diarrhea in six cases was rotavirus, in two Campylobacter, and in one adenovirus, and otitis media in one case was caused by Streptococcus pneumoniae, while in others, etiologic factors of infection were not identified. Spontaneous normalization of serum alkaline phosphatase activity was recorded between one and three months after the onset. Conclusion. BTH is a harmless biochemical disorder that spontaneously subsides within three months after initial observation. It is found randomly as a routine laboratory finding most often within the treatment of acute gastrointestinal and respiratory infections.

Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. Case Outline. A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate short stature (79 cm, A (p.G579R) (exon 17), XLHR was diagnosed. Analysis of the parental PHEX gene did not show the abnormality, which indicated that the child’s XLHR was caused by de novo mutation of this gene. Conclusion. Identification of genetic defects is exceptionally significant for diagnosis and differential diagnosis of hereditary HR.