Pediatr Nephrol (2018) 33:1161–1163 https://doi.org/10.1007/s00467-017-3825-y CLINICAL QUIZ 1 1 2 1 1 Gülşah Kaya Aksoy & Elif Çomak & Bahar Akkaya & Mustafa Koyun & Sema Akman Received: 22 September 2017 /Revised: 26 September 2017 /Accepted: 27 September 2017 /Published online: 2 November 2017 IPNA 2017 . . Keywords Fabry disease Renal involvement Mutation patients, Fabry disease cannot be ruled out even if the levels . . . analysis Proteinuria Alpha-galactosidase A Hearing loss of α-Gal A are normal so mutation analysis is still recom- mended for screening . Elevated levels of deacylated Gb- 3 [globotriaosylsphingosine (lysoGb-3)] in the plasma can be used as a marker for both the diagnosis and follow-up of the Answers progression of Fabry disease . In male patients with Fabry disease, plasma lysoGb-3 levels may be increased by as much Question 1 The electron microscopy study revealed the pres- as 200–400-fold even in the early stages of the disease, while ence of zebra bodies (lamellar lipid inclusion bodies) in the in asymptomatic female patients the plasma lysoGb-3 level podocyte cytoplasm, which is pathognomonic for Fabry dis- may be low . Examination of the urine by polarized light ease . Since Fabry disease is very
Pediatric Nephrology – Springer Journals
Published: Nov 2, 2017
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