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Mucopolysaccharidosis type VI in R ussia, K azakhstan, and Central and Eastern E urope

2013; Wiley; Volume: 56; Issue: 4 Linguagem: Inglês

10.1111/ped.12281

1442-200X

Agnieszka Jurecka, Ekaterina Zakharova, Loreta Cimbalistienė, Nina Gusina, Vĕra Malinová, Agnieszka Różdżyńska‐Świątkowska, Adam Gołda, Anna Kulpanovich, G. Abdilova, Elena Voskoboeva, Anna Tylki‐Szymańska,

Renal Diseases and Glomerulopathies

Abstract Background The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI ( MPS VI ) in R ussia, K azakhstan, and Central and Eastern E urope. Methods Patients ( n = 49) were identified by retrieving the data from eight international centers for MPS VI . Results A large number of patients presented with an attenuated phenotype (33%). Height and genotype were related to the severity of the disease, while no clear trend was observed between height and urinary glycosaminoglycan level. A high prevalence of the p. R152W mutation was observed both in the whole series (42%) as well as in Russian patients (43%). The incidence rate ranged from 0.0363 to 0.64 per 100 000 live births in P oland and L ithuania, respectively. Conclusions The observed high p. R152W carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic origin of the majority of patients homozygous for this mutation, suggest that p. R152W may be of S lavic, not L ithuanian origin. Resettlement of the P olish population after World War II resulted in dilution of the prevalence of carriers in P oland and a very low MPS VI incidence.