Progression of Renal Damage in Glycogen Storage Disease Type I Is Associated to Hyperlipidemia: A Multicenter Prospective Italian Study

Melis, Daniela; Cozzolino, Mariarosaria; Minopoli, Giorgia; Balivo, Francesca; Parini, Rossella; Rigoldi, Miriam; Paci, Sabrina; Dionisi‐Vici, Carlo; Burlina, A; Andria, Generoso; Parenti, Giancarlo

doi:10.1016/j.jpeds.2014.12.015

Cited by 18 publications

(12 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The European study for Glycogen Storage Disease reported in 2002 that 100% of GSD Ia patients developed microalbuminuria or proteinuria by 24 years of age . Once proteinuria developed, treatment with angiotensin converting enzyme (ACE) inhibitors did not prevent progression to end‐stage renal disease …”

Section: Discussionmentioning

confidence: 99%

“…20 Once proteinuria developed, treatment with angiotensin converting enzyme (ACE) inhibitors did not prevent progression to end-stage renal disease. 35,36 A relationship between metabolic control and kidney disease was postulated by Wolfsdorf et al, 37 and renal disease appears to be strongly correlated with hyperlactatemia and hypertriglyceridemia. 21 With improved care, the prevalence of GSD nephropathy has dramatically fallen, and now only the minority of adults develop microalbuminuria or proteinuria (Table 1).…”

Section: Gsd Nephropathymentioning

confidence: 95%

See 1 more Smart Citation

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control

et al. 2017

View full text Add to dashboard Cite

Prior to 1971, type Ia glycogen storage disease was marked by life-threatening hypoglycemia, lactic acidosis, severe failure to thrive, and developmental delay. With the introduction of continuous feeds in the 1970s and cornstarch in the 1980s, the prognosis improved, but complications almost universally developed. Changes in the management of type Ia glycogen storage disease have resulted in improved metabolic control, and this manuscript reviews the increasing evidence that complications can be delayed or prevented with optimal metabolic control as previously was seen in diabetes.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Gsd Nephropathymentioning

confidence: 95%

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control

et al. 2017

View full text Add to dashboard Cite

show abstract

“…In line with the observations that strict diabetes management prevents long-term complications, observational cohort studies of GSD I patients have emphasized the importance of good metabolic control for the prevention of liver adenomas (Wang et al 2011 ), nephropathy (Wolfsdorf et al 1997 ; Martens et al 2009 ; Melis et al 2015 ; Okechuku et al 2017 ) and bone disease (Minarich et al 2012 ; Melis et al 2014 ). For GSD IIIa patients, an association between overtreatment with carbohydrates and hypertrophic cardiomyopathy was suggested by several case-reports (Dagli et al 2009 ; Valayannopoulos et al 2011 ; Sentner et al 2012 ).…”

Section: Introductionmentioning

confidence: 89%

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

Hoogeveen

Peeks

Boer

et al. 2018

J of Inher Metab Disea

View full text Add to dashboard Cite

Background The purpose of this project was to develop a telemedicine platform that supports home site monitoring and integrates biochemical, physiological, and dietary parameters for individual patients with hepatic glycogen storage disease (GSD). Methods and resultsThe GSD communication platform (GCP) was designed with input from software developers, GSD patients, researchers, and healthcare providers. In phase 1, prototyping and software design of the GCP has occurred. The GCP was composed of a GSD App for patients and a GSD clinical dashboard for healthcare providers. In phase 2, the GCP was tested by retrospective patient data entry. The following software functionalities were included (a) dietary registration and prescription module, (b) emergency protocol module, and (c) data import functions for continuous glucose monitor devices and activity wearables. In phase 3, the GSD App was implemented in a pilot study of eight patients with GSD Ia (n = 3), GSD IIIa (n = 1), and GSD IX (n = 4). Usability was measured by the system usability scale (SUS). The mean SUS score was 64/100 [range: . Conclusions This report describes the design, development, and validation process of a telemedicine platform for patients with hepatic GSD. The GCP can facilitate home site monitoring and data exchange between patients with hepatic GSD and healthcare providers under varying circumstances. In the future, the GCP may support cross-border healthcare, second opinion processes and clinical trials, and could possibly also be adapted for other diseases for which a medical diet is the cornerstone.

show abstract

“…The Chronic Kidney Disease in Children study reported that dyslipidaemia shortened the time to the initiation of renal replacement treatment, or to the halving of GFR, by 40% . Severe hyperlipidaemia was associated with progression of renal damage, severe microalbuminuria and proteinuria in children and young adults suffering from type 1 glycogen storage disease . Therefore, while an association between dyslipidaemia and progression of kidney disease has been observed in some studies, the current evidence suggests that this is not a cause‐and‐effect phenomenon.…”

Section: Introductionmentioning

confidence: 66%

“…Τubular function may also be impaired, and, specifically, dysfunction of the distal convoluted tubule has been reported to be apparent in animals with hypercholesterolaemia, resulting in increased magnesuria and hypomagnesemia, without haemodynamic alterations in the kidney . Information concerning these effects is sparse for adults and even more so for children (Tables and ).…”

Section: Introductionmentioning

confidence: 99%

Review shows that lipid disorders are associated with endothelial but not renal dysfunction in children

et al. 2018

View full text Add to dashboard Cite

show abstract

Progression of Renal Damage in Glycogen Storage Disease Type I Is Associated to Hyperlipidemia: A Multicenter Prospective Italian Study

Cited by 18 publications

References 8 publications

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

Review shows that lipid disorders are associated with endothelial but not renal dysfunction in children

Contact Info

Product

Resources

About