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Erschienen in: Pediatric Nephrology 5/2018

24.07.2017 | Clinical Quiz

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

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

Erschienen in: Pediatric Nephrology | Ausgabe 5/2018

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Excerpt

1.
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.
 
2.
Genetic analysis to demonstrate an IFT140 or IFT172 mutation would be the next step to confirm the diagnosis.
 
Literatur
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2.
Zurück zum Zitat Saldino RM, Mainzer F (1971) Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa. Radiology 98:39–45CrossRefPubMed Saldino RM, Mainzer F (1971) Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa. Radiology 98:39–45CrossRefPubMed
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Zurück zum Zitat Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet 9:864–870CrossRef Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet 9:864–870CrossRef
Metadaten
Titel
Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers
verfasst von
Eren Soyaltın
Belde Kasap-Demir
Caner Alparslan
Seçil Arslansoyu-Çamlar
Elif Perihan Öncel
Özgür Kırbıyık
Demet Alaygut
Önder Yavaşcan
Gamze Türe
Fatma Mutlubaş
Publikationsdatum
24.07.2017
Verlag
Springer Berlin Heidelberg
Erschienen in
Pediatric Nephrology / Ausgabe 5/2018
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-017-3742-0

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