Is glycogen storage disease 1a associated with atherosclerosis?

Ubels, F.L.; Rake, Jan Peter; Slaets, Joris P. J.; Smit, Gerrit; Smit, Andries J.

doi:10.1007/s00431-002-1006-9

Cited by 18 publications

(11 citation statements)

References 15 publications

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“…In our group of GSD I patients, hypertension did not seem to play a role in the development of nephropathy, because only two of our patients met the criteria for hyperten- sion. Moreover, even in GSD I patients with apparent dyslipidemia, no premature atherosclerosis was shown (22).…”

Section: Discussionmentioning

confidence: 93%

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Martens

Rake

Navis

et al. 2009

Clinical Journal of the American Society of Nephrology

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Background and objectives: Renal failure is a major complication in glycogen storage disease type I (GSD I). We studied the natural course of renal function in GSD I patients. We studied differences between patients in optimal and nonoptimal metabolic control and possible renoprotective effects of angiotensin converting enzyme inhibition.Design, setting, participants, & measurements: Thirty-nine GSD I patients that visited our clinic were studied. GFR and effective renal plasma flow (ERPF) were measured by means of I 125 iothalamate and I 131 hippuran clearance and corrected for body surface area. Microalbuminuria was defined as >2.5 mg albumin/mmol creatinine and proteinuria as >0.2 g protein per liter. Optimal metabolic control was present when blood glucoses were >3.5 mmol/L, urine lactate/creatinine ratios <0.06 mmol/mmol, triglycerides <6.0 mmol/L, and uric acid concentrations <450 mol/L.Results: Quadratic regression analysis showed a biphasic pattern in the course of GFR and ERPF related to age. Microalbuminuria was observed significantly less frequently in the patients with optimal metabolic control compared with the patients with nonoptimal metabolic control. A significant decrease in GFR was observed after starting ACE inhibition.Conclusions: This study describes a biphasic pattern of the natural course of GFR and ERPF in GSD I patients, followed by the development of microalbuminuria and proteinuria. Optimal metabolic control has a renoprotective effect on the development of microalbuminuria and proteinuria in GSD I patients. Treatment with ACE inhibitors significantly decreases the GFR, especially in GSD I patients with glomerular hyperfiltration.

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Section: Discussionmentioning

confidence: 93%

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Martens

Rake

Navis

et al. 2009

Clinical Journal of the American Society of Nephrology

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“…There are conflicting data about this question, and two small series examining clinical surrogates of early atherosclerosis found no evidence to suggest early atherosclerosis. 119,156 Nonetheless, there are a few case reports of patients with early coronary artery disease. 114 It is likely that early atherosclerosis is a rare complication of GSD I and management should aim to maintain normal blood pressure, renal function, and lipid levels to prevent its occurrence.…”

Section: Cardiovascular Aspectsmentioning

confidence: 99%

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

356

554

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“…Life-long hypercholesterolaemia in young adult GSD Ia patients is not associated with the development of premature atherosclerosis [20,39]. Therefore, cholesterollowering drugs seem not to be indicated in younger GSD I patients.…”

Section: Miscellaneousmentioning

confidence: 98%

“…Although GSD I is associated with chronic hyperlipidaemia, atherosclerosis in the ageing GSD I patient is remarkably rare [20,39]. A vascular complication that may cause more morbidity and mortality in the ageing patient is pulmonary hypertension followed by progressive heart failure.…”

Section: Management Of Complications (Directly) Related To Metabolic mentioning

confidence: 98%

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

Rake

Visser

Labrune³

et al. 2002

European Journal of Pediatrics

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Is glycogen storage disease 1a associated with atherosclerosis?

Abstract: glycogen storage disease type 1a is not associated with premature atherosclerosis, despite the existence of longstanding dyslipidaemia and microalbuminuria.

Cited by 18 publications

References 15 publications

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

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