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
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera