The role of automated analyzers in detecting abnormal granulation of leucocytes in lysosomal storage diseases: <scp>M</scp>aroteaux–<scp>L</scp>amy disease

Piva, Elisa; Pelloso, Michela; Ciubotaru, Daniela; Penello, Laura; Burlina, Alberto; Plebani, Mario

doi:10.1002/ajh.23377

Cited by 7 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Аномалия Альдера встречается при некоторых лизосомных болезнях накопления, темные гранулы можно наблюдать в лимфоцитах, моноцитах и нейтрофилах, и они часто окружены четким ореолом. Хотя анализ мазков крови не является основным при диагностике лизосомных болезней накопления, морфологические аномалии, связанные с клиническими проявлениями, помогают заподозрить заболевания из этой группы [12,13]. В описанном нами случае эти аномалии стали основанием для направления ребенка на консультацию гематолога, которым и было инициировано дополнительное обследование по диагностике лизосомных болезней накопления.…”

Section: клиническое наблюдениеunclassified

Early Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical Case

Ivanov

Ostrun

Kenis

et al. 2021

Vopr. sovr. pediatr.

View full text Add to dashboard Cite

Background. Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is rare autosomal-recessive multisystem disease, one of the group of lysosomal storage diseases. The MPS VI pathogenesis is determined by arylsulfatase B enzyme deficiency caused by mutations in the ARSB gene. There are only few published clinical examples of this disease that covers the results of early enzyme replacement therapy (ERT) onset.Clinical case description. The child was suspected to have lysosomal storage disease at the age of 1.5 months, it was based on microscopic analysis of blood smears: Alder abnormality was revealed (granulations and red-violet inclusions in neutrophils, monocytes, lymphocytes cytoplasm). The diagnosis was confirmed at the age of 3 months: increased glycosaminoglycans (GAGs) concentration in the urine, arylsulfatase B activity decrease in dried blood spots, and pathogenic variant c.943C>T (p. R315X) in the ARSB gene in homozygous state were revealed. ERT with galsulfase was started at the age of 7 months. There was decrease in excretion of GAGs in urine to normal level after 9 and 15 months of therapy. Normal growth and body proportions for the patient’s age were determined 3 years after continuous ERT. However, there was progression of multiple dysostosis and joint stiffness, as well as eyes lesion.Conclusion. Early ERT onset cannot completely stop MPS VI progression but it allows to reduce the severity of several symptoms and improves patient’s quality of life.

show abstract

Section: клиническое наблюдениеunclassified

Early Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical Case

Ivanov

Ostrun

Kenis

et al. 2021

Vopr. sovr. pediatr.

View full text Add to dashboard Cite

show abstract

“…In this case, detection of pseudo‐basophilia by automated CBC analysis and careful review of the peripheral blood smear were important in selecting the appropriate diagnostic pathway. Prior reports have also highlighted the major role that automated CBC analysis and peripheral smear review play in the diagnosis of rare metabolic diseases 4,5 …”

Section: Imagementioning

confidence: 99%

“…Prior reports have also highlighted the major role that automated CBC analysis and peripheral smear review play in the diagnosis of rare metabolic diseases. 4,5…”

mentioning

confidence: 99%