A case of hypotonia-cystinuria syndrome with genito-urinary malformations and extrarenal involvement

Francesca Taroni, Valentina Capone, Alfredo Berrettini, Erika Adalgisa De Marco, Gian Antonio Manzoni, Giovanni Montini

Research output: Contribution to journalArticle

Abstract

Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC 3 A1 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 HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome.

Original languageEnglish
Article number127
JournalFrontiers in Pediatrics
Volume7
Issue numberAPR
DOIs
Publication statusPublished - Jan 1 2019

Fingerprint

Atrial Septum
Kidney
Patent Foramen Ovale
Muscle Hypotonia
Cryptorchidism
Kidney Calculi
Cystine
Rare Diseases
Hypotonia-Cystinuria Syndrome
Aneurysm
Chromosomes
Mutation
Genes
Cakut

Keywords

  • CAKUT
  • Cryptorchidism
  • Hypotonia cystinuria syndrome
  • Patent foramen ovale
  • PREPL
  • SLC3A1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

A case of hypotonia-cystinuria syndrome with genito-urinary malformations and extrarenal involvement. / Taroni, Francesca; Capone, Valentina; Berrettini, Alfredo; De Marco, Erika Adalgisa; Manzoni, Gian Antonio; Montini, Giovanni.

In: Frontiers in Pediatrics, Vol. 7, No. APR, 127, 01.01.2019.

Research output: Contribution to journalArticle

@article{2dbba46b4d0243d1ab85a6a65067fbe2,
title = "A case of hypotonia-cystinuria syndrome with genito-urinary malformations and extrarenal involvement",
abstract = "Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC 3 A1 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 HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome.",
keywords = "CAKUT, Cryptorchidism, Hypotonia cystinuria syndrome, Patent foramen ovale, PREPL, SLC3A1",
author = "Francesca Taroni and Valentina Capone and Alfredo Berrettini and {De Marco}, {Erika Adalgisa} and Manzoni, {Gian Antonio} and Giovanni Montini",
year = "2019",
month = "1",
day = "1",
doi = "10.3389/fped.2019.00127",
language = "English",
volume = "7",
journal = "Frontiers in Pediatrics",
issn = "2296-2360",
publisher = "Frontiers Media S. A.",
number = "APR",

}

TY - JOUR

T1 - A case of hypotonia-cystinuria syndrome with genito-urinary malformations and extrarenal involvement

AU - Taroni, Francesca

AU - Capone, Valentina

AU - Berrettini, Alfredo

AU - De Marco, Erika Adalgisa

AU - Manzoni, Gian Antonio

AU - Montini, Giovanni

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC 3 A1 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 HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome.

AB - Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC 3 A1 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 HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome.

KW - CAKUT

KW - Cryptorchidism

KW - Hypotonia cystinuria syndrome

KW - Patent foramen ovale

KW - PREPL

KW - SLC3A1

UR - http://www.scopus.com/inward/record.url?scp=85064719056&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85064719056&partnerID=8YFLogxK

U2 - 10.3389/fped.2019.00127

DO - 10.3389/fped.2019.00127

M3 - Article

VL - 7

JO - Frontiers in Pediatrics

JF - Frontiers in Pediatrics

SN - 2296-2360

IS - APR

M1 - 127

ER -