Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
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Renal failure has been reported recently as a late complication of glycogen storage disease type I (GSD I). We studied the renal function of 23 patients, mean age 10.9 years (range 2.2-21.6 years). The mean glomerular filtration rate (GFR) and effective renal plasma flow (ERPF) were 188 +/- 50 and 927 +/- 292 ml/min per 1.73 m2, respectively (normal values for adult controls 90-145 and 327-697, respectively). Hyperfiltration (GFR greater than 145 ml/min per 1.73 m2) was found in 19 of 23 patients. There was no difference in GFR and ERPF between age groups 2-10 and 11-22 years. After a mean follow-up of 2.5 years (range 1-7.5 years) GFR and ERPF did not significantly change. At follow-up 3 patients (all older than 15 years) developed persistent glomerular proteinuria (0.1, 0.5 and 0.9 g/day). Besides a slight increase in fractional excretion of beta 2-microglobulin (FE-beta 2m) in 6 patients, proximal tubular function tests (FE-beta 2m, tubular reabsorption of phosphate and glucosuria) were normal. In patients with increased kidney length related to body height, GFR and ERPF were significantly higher than in patients with normal kidney length. We conclude that GSD I is characterised by hyperfiltration and hyperperfusion. The relative increment in kidney length is related to the degree of hyperfiltration.
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PMID:Renal function and kidney size in glycogen storage disease type I. 161 30

Type I glycogen storage disease (GSD-I) is due to the deficiency of glucose-6-phosphatase activity in the liver, kidney and intestine. Although kidney enlargement occurs in GSD-I, renal disease has not been considered a major problem until recently. In older patients (more than 20 years of age) whose GSD-I disease has been ineffectively treated, virtually all have disturbed renal function, manifested by persistent proteinuria; many also have hypertension, renal stones, altered creatinine clearance or a progressive renal insufficiency. Glomerular hyperfiltration is seen in the early stage of the renal dysfunction and can occur before proteinuria. In younger GSD-I patients, the hyperfiltration is usually the only renal abnormality found; and, in some patients, microalbuminuria develops before clinical proteinuria. The predominant underlying renal pathology is focal segmental glomerulosclerosis. Renal stones and/or nephrocalcinosis are also common findings. Amyloidosis and Fanconi-like syndrome can occur, but rarely. The risk factors for developing the glomerulosclerosis in GSD-I include hyperfiltration, hypertension, hyperlipidemia and hyperuricemia. Dietary therapy with cornstarch and/or nasogastric infusion of glucose, aimed at maintaining normoglycemia, corrects metabolic abnormalities and improves the proximal renal tubular function. Long-term trial will be needed to assess whether the dietary therapy may prevent the evolution or the progression of the renal disease.
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PMID:Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. 202 44

Although kidney enlargement occurs in Type I glycogen storage disease, renal disease has not been considered a major problem. Death from renal failure in three patients known to us prompted a study of renal function in this disorder. Of the 38 patients with Type I glycogen storage disease under our care, the 18 children under 10 years old had normal renal function. Fourteen of the 20 older patients (13 to 47 years) had disturbed renal function, manifested by persistent proteinuria; many also had hypertension, hematuria, or altered creatinine clearance. Progressive renal insufficiency developed in 6 of these 14 patients, leading to three deaths from renal failure. At the onset of proteinuria, creatinine clearance was increased in seven patients (3.05 +/- 0.68 ml per second per 1.73 m2 of body-surface area; range, 2.47 to 4.13 [normal range, 1.33 to 2.33 ml per second per 1.73 m2]). Renal biopsies were performed in three patients after an average of 10 years of proteinuria. All three biopsies demonstrated focal segmental glomerulosclerosis in various stages of progression. Our data suggest that chronic renal disease is a frequent and potentially serious complication of Type I glycogen storage disease. In addition to treating hypoglycemia vigorously, physicians should monitor renal function carefully in patients with this disorder.
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PMID:Renal disease in type I glycogen storage disease. 342 4

Three children had renal histopathologic findings indicative of glycogen storage disease type I. Glomerular basement membrane (GBM) alterations were present in the three patients, particularly so in the two patients with proteinuria. Thickening, lamellation, and glycogen deposition were the characteristic alterations in the GBM. Glomerulosclerosis was prominent in one patient. We suggest that the GBM alteration is related to the glomerular sclerosis and that both are related to metabolic derangements of glycogen storage disease type I.
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PMID:Renal glomerular and tubular abnormalities in glycogen storage disease type I. 342 2

A 59-year-old Japanese farmer with asymptomatic fasting hypoglycemia and with exaggerated hypoglycemic episodes induced by insulin and oral hypoglycemic agent administered for his postprandial hyperglycemia was diagnosed as glycogen storage disease type I. This diagnosis was suggested by unresponsiveness of blood glucose level to glucagon and confirmed by 13% normal level of glucose 6-phosphatase activity in liver biopsy specimen and by the presence of PAS positive amylase digestable glycogen in liver specimen. This case was associated with an incomplete type of Fanconi syndrome characterized by hyperphosphaturic hypophosphatemia, partial aminoaciduria, mild proteinuria and hyperuricosuric normouricemia in spite of the lactic acidemia due to glycogen storage disease type I. The etiology for the absence of hypoglycemia and other typical manifestations of glycogen storage disease type I was studied. The glucose production from glycogen by lysosomal alpha 1,4-glucosidase especially at prolonged fasting and the presence of postprandial hyperglycemia by insulin deficiency are regarded as responsible for keeping this patient free from typical manifestations of glycogen storage disease type I.
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PMID:A case of glycogen storage disease type I associated with an incomplete type of Fanconi syndrome; the protective role of lysosomal alpha 1,4-glucosidase and insulin deficiency against hypoglycemia. 639 62

Deficiency of the enzyme glucose-6-phosphatase is the biochemical defect in glycogen storage disease type I (GSD I). Normally this enzyme is present in the liver, intestine and kidneys. The lack of the enzyme in the kidney makes it obvious that glycogen storage will not be restricted to the liver but that also the kidneys will be involved, possibly resulting in renal damage. Glycogen storage in the kidney is most outspoken present in the proximal tubular cells. In case of insufficient metabolic control, a Fanconi-like syndrome can develop, disappearing with improved therapy. Although renal disease has not been considered a problem in GSD I, recent findings indicate that especially in adult patients chronic renal disease is a common complication. In the past gout nephropathy and renal stones were the complications mentioned. Recently it appears that in a considerable number of patients after a period of 'silent' hyperfiltration, renal damage develops with proteinuria, hypertension and renal dysfunction later on. In biopsies of such patients focal glomerulosclerosis is found.
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PMID:Renal complications in glycogen storage disease type I. 831 28

To evaluate effective renal plasma flow (ERPF) we performed renal scintigraphies with 99mTc-Mercaptoacetyl-triglycine (MAG3) in nine patients with glycogen storage disease I (GSD I) (age: 16 +/- 7 years). Two patients presented with proteinuria, none showed hyperaminoaciduria, disturbed tubular reabsorption of phosphate or hypertension. 99mTc-MAG3 clearance values were elevated in eight out of nine patients (865 +/- 233 ml/min/1.73 m2 body surface area) and exceeded the age-dependent mean values by 21%-145%. ERPF values in patients with poor metabolic control were higher than in patients with long-term good metabolic control (988 +/- 186 vs. 619 +/- 55 ml/min/1.73 m2; P < 0.05). We conclude that enhanced ERPF is a common finding in GSD I patients, which precedes clinically overt nephropathy. Renal scintigraphy with 99mTc MAG3 is a suitable method for the early detection and monitoring of kidney dysfunction in GSD I.
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PMID:Effective renal plasma flow in patients with glycogen storage disease type I. 840 72

Urinary protein and calcium excretion were assessed in 77 patients with the hepatic glycogen storage diseases (GSD): 30 with GSD-I (median age 12.4 years, range 3.2-32.9 years), 25 with GSD-III (median age 10.5 years, range 4.2-31.3 years) and 22 with GSD-IX (median age 11.8 years, range 1.2-35.4 years). Inulin (Cinulin) and para-aminohippuric acid (CPAH) clearances were also measured in 33 of these patients. Those with GSD-I had significantly greater albumin (F = 15.07, P < 0.001), retinol-binding protein (RBP) (F = 14.66, P < 0.001), N-acetyl-beta-D-glucosaminidase (NAG) (F = 9.41, P < 0.001) and calcium (F = 7.41, P = 0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n = 18) also had significantly higher Cinulin (F = 5.57, P = 0.009), but CPAH did not differ (F = 0.77, NS). Renal function was normal in GSD-III and GSD-IX patients. In GSD-I, Cinulin (r = -0.51, P = 0.03) and NAG excretion (r = -0.40, P = 0.03) were inversely correlated with age, whereas albumin excretion was positively correlated with age (r = +0.41, P = 0.03). RBP and calcium excretion were generally high throughout all age groups. Hyperfiltration in GSD-I is associated with renal tubular proteinuria that occurs before the onset of significant albuminuria. Deficiency of glucose-6-phosphatase within the proximal renal tubule may primarily cause tubular dysfunction, glomerular hyperfiltration being a secondary phenomenon.
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PMID:Glomerular and tubular function in glycogen storage disease. 874 9

We studied the effect of ramipril on proteinuria and mild hypertension in a 21-year-old patient affected by glycogen storage disease type I non-A. After few months of therapy we obtained a decrease in total urine protein excretion that later re-increased in spite of the high dose of ACE inhibitor. Even if ACE inhibitors are the only effective therapy for GSD I nephropathy, further studies are requested.
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PMID:Ramipril treatment in a patient with glycogen storage disease I non-A. 1255 44

Glycogen storage disease type Ia (GSDIa) is an inherited disorder of glucose metabolism, due to the selective deficiency of the hepatic enzyme glucose-6-phosphatase. Clinical manifestations include severe hypoglycaemia three to four hours post-prandially, increased production of lactic acid, triglycerides and uric acid, hepatic glycogen storage disease with development of multiple adenomas and kidney disease with proteinuria. Liver transplantation is frequently performed in order to achieve metabolic control and when malignant transformation of adenomas is suspected. Long term outcome following transplantation is good, but immunosuppressive therapy can worsen the progression of associated kidney disease. Hepatocyte transplantation could be considered as a less invasive procedure in such patients. Our experience with hepatocyte transplantation in a 47 year-old woman affected by glycogen storage disease type Ia and suffering of severe fasting hypoglycaemia indicates that the procedure can partially correct some metabolic abnormalities and improve the quality of life in this disease. However, the metabolic improvement was reduced and finally abolished during long term follow-up, probably due to rejection or to senescence of transplanted cells. Moreover, the portal and pulmonary hypertension associated with the disease need to be evaluated for their possible influence on haemodynamic changes associated with cell infusion. Finally, hepatic adenomas need careful monitoring because of the possible risk of malignant transformation.
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PMID:Liver and liver cell transplantation for glycogen storage disease type IA. 1643 6


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