IMPAIRMENT OF PEROXISOME BIOGENESIS IN THE SPECTRUM OF ZELLWEGER SYNDROME (CLINICAL CASE).

The incidence of rare diseases is approximately two cases per 10,000 people. Today, in most cases, orphan diseases are caused by genetic disorders, less often - some forms of oncological, oncohematological, infectious disorders. These conditions have a severe and chronic course, accompanied by a decrease in quality and a reduction in the life expectancy of patients. Aim - describe a clinical case of an rare disease that is referred to as Zellweger spectrum disorders. Literature review and analysis of clinical-anamnestic and laboratory-instrumental methods of research of a 6.5 years old girl. The given clinical case, namely Zellweger spectrum disorders (ZSD), is a hereditary autosomal recessive disease characterized by nonspecific clinical manifestations and phenotype, which complicates timely diagnosis and delays symptomatic, and in some cases prognostically favorable treatment. Molecular genetic research makes it possible to finally confirm this disease. Therefore, at the slightest suspicion of this pathology, it is worth investigating the level of long-chain fatty acids, plasmalogen of erythrocytes, intermediate metabolites of bile acid synthesis, or carrying out genetic sequencing. Further studies of this condition are carried out in the world in order to obtain new methods of treatment and improve the quality of life of patients. The presented clinical case of a rare disease, which belongs to ZSD, confirms the need for alertness of family doctors and pediatricians in order to timely diagnose and correct rare diseases in children.

COMPLEX VISUAL ASSESSMENT OF STRUCTURAL CHANGES IN PANCREAS IN THE PATIENTS WITH CHRONIC PANCREATITIS.

Chronic pancreatitis is one of the leading gastroenterologic disorders which is characterised by polymorphism of clinical manifestations, polyetiologic course and, usually, polymorbidity. The presence of such a combination of signs makes both diagnosis and treatment more difficult. This is why nowadays it is necessary to use a range of clinical, laboratory and instrumental methods of a diagnostic endeavour in order to make a diagnosis and determine the state of the pancreas. The aim of this study - to investigate and analyse structural changes in the pancreas in chronic pancreatitis in the anamnestic and clinical dimensions. In the present study, in order to achieve our aim 102 patients with chronic pancreatitis underwent general physical and laboratory examination. All the patients experienced hypertension II as a comorbid condition. In the formed group, female patients prevailed (55,9%) with the average age being 51,0±10,0 years. The duration of chronic pancreatitis was within a range of 7,0±3,0 years, whereas the hypertension duration range was 5,0±2,0 years. The following instrumental examination procedures were performed: sonographic examination of the abdominal cavity, esophagogastroduodenoscopy, duodenal drainage and endoscopic retrograde cholangiopancreatography (ERCP). Apart from hypertension, the patients with chronic pancreatitis belonging to the treatment group were diagnosed with other morphological and functional disorders related to the endocrine system, the digestive system and cardiovascular system which were revealed with the use of additional laboratory and instrumental methods. When the clinical picture was assessed on admission to hospital, all the patients presented with pain dyspeptic syndrome and exocrine pancreatic insufficiency in different proportions. 12 patients with chronic pancreatitis, whose clinical picture showed a marked pain abdominal syndrome, the intensity of which did not subside during 3 weeks of background therapy, and the absence of dynamic changes according to the ultrasound examination of the pancreas, underwent the additional diagnostic procedure ERCP to identify structural changes of the pancreatic ducts and parenchymatous parameters of the pancreas. The findings were as follows: the signs of the dilation of the major pancreatic duct were identified in all examined patients (100%), which did not coincide with the data provided by the ultrasound examination; the dilation of the small pancreatic ducts was found in 2 (16,7%) patients, lithiasis of Wirsung's duct in 3 (25,0%) patients; the combination of cystic transformation and calcinosis of the major pancreatic duct in 1 patient (8,4%); and cystic transformation in combination with the dilation of the duct of Wirsung in 2 (16,7%) patients. The imaging of structural changes in the pancreas requires the combination of instrumental and diagnostic methods, in particular EGD and ultrasound examination, as well as ERCP in order to make accurate assessment of the pancreatic ducts and parenchymatous parameters of the pancreas in case of a relapsing course of disease. The analysis of the identified disorders of the pancreatic ducts and parenchyma makes it possible to adjust treatment protocols to provide proper clinical care to patients with chronic pancreatitis.

ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).

The oral-facial-digital syndrome belongs to a group of hereditary diseases, manifested by multiple birth defects (usually, the face and fingers). At the current stage, there are 14 genetic variations of the oral-facial-digital syndrome. The presence of various abnormalities of the oral cavity, face and fingers is common for all of them, but each syndrome has a specific phenotype or type of inheritance. The etiology of this syndrome is unknown. It is inherited in an X-linked dominant pattern. Aim of the study: to describe and analyze the clinical case of oral-facial-digital syndrome. Data of the patient (Kira M., 11 months old): clinical-anamnestic examination, chest radiography, ultrasound investigation, molecular-genetic testing OFD1. Results Numerous miliae are detected on the face and ears of the child. Facial dysmorphy (large wide eyes, epicantus, wide nose bridge, telecantus, small mouth, small beak shaped nose, hypoplasia of the wings of the nose, small chin). The large fontanel is closed. Focal alopecia and dry hair are noted. Syndactyly of 2nd-3rd toes, asymmetrical shortening of the index finger of the right hand. Oral cavity examination reveals cleft palate, ankyloglossy and tongue lobulation. Transcranial ultrasonography: M echodex = 50.0 mm. M echosin = 52.0 mm. VIII = 6.9 mm (N up to 3.0 mm). V latdex = 24.4 mm, V latsin = 25.0 mm (N up to 16.0 mm). Neurologist's consultation: "Congenital brain malformation: agenesis of corpus callosum, congenital cerebral cysts." Ultrasound examination of the abdominal organs detected liver enlargement (anteroposterior size of the right lobe: 78 mm (N up to 65 mm), left lobe: 0.38 mm (+1.5 cm) Conclusion Oral-facial-digital syndrome type I is an inherited pathology, which in most cases is diagnosed immediately after birth on the basis of oral, facial and digital anomalies. Molecular genetic study makes it possible to confirm this disease and provide counseling to family members. Elimination of some developmental defects (hard palate plastic, correction of frenulum hyperthrophy), as well as a properly selected complex of therapeutic and rehabilitation measures greatly improves the quality of life of the patient and contributes to a favorable forecast.

[State of homeostasis links in the children with intestinal colic].

The state of homeostasis links in the children with intestinal colic is represented by the following parameters and clinical characteristics. The data of investigated children's contingent with intestinal colic prevailed by following comorbidities: SARS--12 (18.18% ± 4.78%), protein-energy malnutrition--9 (12.85% ± 3.82%), pneumonia--6 (8.57% ± 3.57%), atopic dermatitis--7 (10.00% ±.3.57%). All children have a next complaints: flatulence (100%), in the 62 children (88.57% ± 3.82%) were identificated frequent regurgitation, in the 48 (80.33%)--hyperbilirubinemia. ALT levels were elevated in 25 children (41%) and 31 (51.66%) children had increased levels of AST. IL8 level were elevated in the 40 children (71.42%). The level of antibodies to elastase was greatly increased in all 56 (100%) children.