Table 5 Reported cases of gout in glycogen storage disease type Ia in the recent 30 years
Reference | Sex | Age | Age of gout onset | Sites of gouty attacks | Gouty tophi | Renal involvement | Other presentations | SUA (μmol/L) | LA (mmol/L) | TC (mmol/L) | TG (mmol/L) | FBS (mmol/L) | ULT |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Talente et al. [14] | M | 43 | 18 | – | – | Renal medullary calcifications. Renal parenchymal cysts. Renal biopsy showed focal glomeru losclerosis. Progressive renal insufficiency requiring chronic haemodialysis. | Hepatomegaly, multiple hepatic adenomas, growth retardation, frequent nosebleeds | 339 | – | 8.22 | 17.5 | 2.8 | Allopurinol |
Hou et al. [26] | F | 14 | 14 | – | Subcutaneous nodules over the dorsum of right hand | – | Hepatomegaly, growth retarcation, abnormal liver function | 916 | 5 | 5.04 | 8.77 | 2.2 | – |
Faivre et al. [27] | M | 23 | 21 | MTP1 | – | – | Hepatomegaly, multiple hepatic adenomas, growth retardation | 711 | ↑ | – | – | ↓ | Allopurinol |
Carvès et al. [24] | M | 17 | 17 | Right Achilles tendon | – | – | Hepatomegaly | 680 | 7 | – | 3.26 | 3.5 | Allopurinol |
Carvès et al. [24] | F | 14 | 14 | – | – | Proteinuria (24-h urinary protein was 1.475 g). | Hepatomegaly | 625 | 4.42 | 6.14 | 3.3 | – | – |
F | 23 | 20 | Left MTP1, bilateral ankle, and knee joints | – | Renal biopsy showed chronic interstitial tubular change. | Hepatomegaly, growth retardation, abnormal liver function, osteoporosis, mild anaemia | 567 | – | 9.35 | 13.08 | 3.1 | Anti-hyperuricaemic drugs | |
Adenwalla et al. [29] | F | 37 | 30 | Catastrophic axial gout that caused paraplegia | Extensive tophaceous deposits involving her bilateral pinnae, elbows, and interphalangeal joints of upper and lower extremities | – | Hepatomegaly, abnormal liver function, mild anaemia | 648 | – | – | 2.37 | – | Febuxostat |
Ng et al. [30] | M | 28 | 16 | Large and small joints of all 4 limbs | Extensive tophaceous deposits involving MCP, interphalangeal joints, forearms, elbows, and the pinna of his ears | – | Hepatomegaly, hepatic adenoma, severe anaemia | 830 | 10.2 | – | 2.14 | 2.9 | – |
Shieh et al. [31] | M | 32 | 21 | – | – | – | Hepatomegaly, hepatic hemangioma, mild anaemia | 690 | 4.12 | 2.10 | 3.52 | 3.6 | Allopurinol |
Shieh et al. [31] | F | 34 | 18 | – | – | – | Hepatomegaly, mild anaemia | 534 | 2.49 | 3.04 | 10.45 | 3.7 | Allopurinol |
Zhang et al. [15] | F | 27 | 13 | MTP joints, bilateral ankles, right knee | Multiple nodules in her MTP joints, ankles, and fingers | Renal medullary calcifications. | Hepatomegaly | 789 | 7.4 | 6.6 | 6.22 | 3.6 | Allopurinol and benzbromarone |