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01-05-2018 | Clinical Quiz

Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers

Authors: Eren Soyaltın, Belde Kasap-Demir, Caner Alparslan, Seçil Arslansoyu-Çamlar, Elif Perihan Öncel, Özgür Kırbıyık, Demet Alaygut, Önder Yavaşcan, Gamze Türe, Fatma Mutlubaş

Published in: Pediatric Nephrology | Issue 5/2018

Excerpt

Taking into account the end-stage chronic kidney disease (CKD), retinitis pigmentosa (RP), cone-shaped epiphyses (CSE), and coxofemoral findings, the most likely diagnosis is Mainzer–Saldino (conorenal) syndrome in our patient.

Genetic analysis to demonstrate an IFT140 or IFT172 mutation would be the next step to confirm the diagnosis.

…

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Title: Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers
Authors: Eren Soyaltın
Belde Kasap-Demir
Caner Alparslan
Seçil Arslansoyu-Çamlar
Elif Perihan Öncel
Özgür Kırbıyık
Demet Alaygut
Önder Yavaşcan
Gamze Türe
Fatma Mutlubaş
Publication date: 01-05-2018
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 5/2018
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-017-3742-0

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Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers

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