Renal Disease in Type I Glycogen Storage Disease

Abstract

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.

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

“…Renal biopsies performed in three GSD I patients with persistent proteinuria showed focal segmental glomerulosclerosis (11). These findings might suggest an etiology of glomerular hyperfiltration and proteinuria similar to diabetic nephropathy (12).…”

Type 1 glycogen storage disease presenting with distal renal tubular acidosis

“…There are several case reports 3,4 and researches 5,6,7 which reveal that in type 1 GSD hypercalciuria and hypocitricaciduria increase with age and dRTA has been implicated in development of nephrolithiasis 8 and chronic renal disease. There are several case reports of GSD type 1 patients later presenting with renal stones who are found to have dRTA 3,4,5 .…”

“…Furthermore, these studies concluded that citrate supplementation may be beneficial in preventing or ameliorating nephrocalcinosis and development of urinary calculi in GSD 1a 6 . One study states that chronic renal disease is a frequent and potentially serious complication of type 1 GSD and physicians should monitor renal function carefully in patients with this disorder 7 . But there were no reported cases of GSD type 1 initially presenting with dRTA.…”

Glycogenosis type I

“…Parece que um considerável número de pacientes, após um período de hiperfiltração renal silenciosa, desenvolve danos renais com proteinúria, hipertensão e disfunção renal subseqüente. Na biópsia renal encontra-se glomeruloesclerose focal, com a intensidade da fibrose proporcional ao grau de insuficiência renal [22][23][24] .…”