Proteinuria in a male adolescent with hearing loss: Answers

Proteinuria in a male adolescent with hearing loss: Answers 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 [4]. 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 [5]. 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 [6]. Examination of the urine by polarized light ease [1]. Since Fabry disease is very http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Pediatric Nephrology Springer Journals

Proteinuria in a male adolescent with hearing loss: Answers

Loading next page...
 
/lp/springer_journal/proteinuria-in-a-male-adolescent-with-hearing-loss-answers-X798aBBj9B
Publisher
Springer Berlin Heidelberg
Copyright
Copyright © 2017 by IPNA
Subject
Medicine & Public Health; Pediatrics; Nephrology; Urology
ISSN
0931-041X
eISSN
1432-198X
D.O.I.
10.1007/s00467-017-3825-y
Publisher site
See Article on Publisher Site

Abstract

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 [4]. 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 [5]. 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 [6]. Examination of the urine by polarized light ease [1]. Since Fabry disease is very

Journal

Pediatric NephrologySpringer Journals

Published: Nov 2, 2017

References

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

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

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

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.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off