Experience of practical training of future pediatricians in academic discipline of choice “Orfan diseases”

A significant contribution to the morbidity and mortality of children is due to hereditary pathology, which is manifested by high mortality. Aim of the research. To study the frequency of occurrence, structure and clinical and laboratory markers of hereditary metabolic diseases in children of the first half of the year with suspicion of this pathology. Materials and methods. A retrospective analysis of case histories (form No. 003/y) and a face-to-face examination of patients directed to blood tests by tandem mass spectrometry, from Surgery Unit No. 2 for Newborns and Premature Babies and from the Unit of Pathology of Newborns, (Ivano-Matryoninskaya City Children’s Clinical Hospital, Irkutsk). Results. In 2019, 21 children with suspected hereditary metabolic diseases were examined using the tandem mass spectrometry method in the above mentioned departments. All of them had at least one of the main clinical criteria for hereditary metabolic diseases: 67 % had hepatomegaly in combination with an increase in the level of liver enzymes, 43 % had a hereditary history and metabolic acidosis, 33 % showed a sudden deterioration after a period of normal development, 24 % had hypoglycemia, and 14 % had an abnormal urine or body odor, in 4.7 % of cases there was an increase in ketone bodies in the blood and (or) urine. All children identified from 3 to 7 additional criteria, which are indications for examination on the hereditary metabolic diseases. The results of the study revealed 5 children with hereditary metabolic diseases namely amino acid metabolism. 90 % of them had a burdened hereditary history, 100 % had a concomitant pathology – hepatitis and cholestatic lesions of the liver, anemia, an open oval window and others. Conclusion. Despite the obvious economic and medical significance of preclinical identification of patients with hereditary metabolic diseases, the screening problem contains many open questions that need to be addressed at all levels of the organization.

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Clinical and Laboratory Markers of Hereditary Metabolic Diseases in Children of the First Half of Life

Мартынович

Globenko

Kuznetsova³

2020

Acta biomedica scientifica

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Hunter Syndrome: Clinical Case of Early Diagnostics

et al. 2020

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Background. This clinical case of orphan disease can be interesting for its early diagnostics which is essential for timely specific therapy and sufficient dynamic observation. Clinical case description. Mucopolysaccharidosis type II (Hunter syndrome) diagnosis at the age of 12 months was based on common external manifestations, recurrent otitis and isolated osteoarticular system lesions without any other systems decompensations. The awareness of doctors about the disease criteria and its diagnostics algorithm, as well as the availability of laboratory testing on lysosomal enzyme iduronate-2-sulfatase (I2S) activity are crucial for early diagnosis. The patient has undergone molecular genetic testing: mutations in the IDS gene encoding iduronate-2-sulfatase were revealed. The enzyme replacement therapy with idursulfase according to the protocol has been started. Patient's condition has improved on the therapy (after 4 months of the therapy): stable neuropsychic development (no delay), increased large joints flexibility, reduced hepatosplenomegaly, and no hearing loss. Conclusion. Timely diagnostics of mucopolysaccharidosis allows to start enzyme replacement therapy early and significantly ease the disease course despite the severe congenital defect in the glycosaminoglycans metabolism.

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Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

Semschikova

Kozlov

Yakovlev³

et al. 2022

Pediatr. farmakol.

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Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy for mucopolysaccharidosis type IVA (MPS IVA).Clinical case description. MPS IV (Morquio syndrome) diagnosis at the age of 11 was based on typical progressive external signs such as thoracolumbar scoliosis, coxarthrosis with restriction of both active and passive movements. Enzymodiagnostics in dried blood spots has shown dramatic decrease of N-acetylgalactosamine-6-sulfatase activity — 0.01 μM/l/h specific to MPS IVA. Direct automatic sequencing of the GALNS gene has revealed pathogenic nucleotide variants in the compound heterozygous state: c.143T>G; p(Val48Gly) and c.697G>A; p.(Asp233Asn). That allowed us to establish MPS IVA diagnosis. Enzyme replacement therapy with elosulfase alpha was started according to the protocol. According to significant changes in the musculoskeletal system, the expected therapeutic effect (stabilization and no disease progression) can be achieved not earlier than after 8–12 months.Conclusion. Timely MPS diagnosis allows us to implement enzyme replacement therapy at the earliest possible time and thereby to avoid non-reversible complications of the disease itself.

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Experience of practical training of future pediatricians in academic discipline of choice “Orfan diseases”

Cited by 4 publications

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Clinical and Laboratory Markers of Hereditary Metabolic Diseases in Children of the First Half of Life

Clinical and Laboratory Markers of Hereditary Metabolic Diseases in Children of the First Half of Life

Hunter Syndrome: Clinical Case of Early Diagnostics

Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

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