A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement

A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement

Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with...

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Hlavní autoři: Francesca Taroni, Valentina Capone, Alfredo Berrettini, Erika Adalgisa De Marco, Gian Antonio Manzoni, Giovanni Montini
Médium: Článek
Jazyk:English
Vydáno: Frontiers Media S.A. 2019-04-01
Edice:Frontiers in Pediatrics
Témata:
hypotonia cystinuria syndrome
PREPL
SLC3A1
CAKUT
patent foramen ovale
cryptorchidism
On-line přístup:https://www.frontiersin.org/article/10.3389/fped.2019.00127/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00127/full

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