RESUMEN
Hyperinsulinism/hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1 gene, and causes fasting as well as protein sensitive symptomatic hypoglycemia, in addition to persistently elevated plasma ammonia levels. First-line treatment is diazoxide, and most patients respond well to this agent, however side effects may be observed. The most frequent side effect of diazoxide is fluid retention and hypertrichosis, while hyperuricemia and hematologic side effects are observed less often. Herein, we report a case who had a heterozygous mutation of GLUD1 gene and who developed diazoxide related neutropenia 8 years after the start of treatment. On follow-up, leucopenia and mild neutropenia persisted and the treatment was changed to somatostatin analogues. However, she developed persistent severe symptomatic hypoglycemia and required diazoxide retreatment. A lower dose of diazoxide (6 mg/kg/day) successfully controlled hypoglycemia and cell counts increased even though they were not normalized. Neutropenia in current case presented after a long period of time of diazoxide use and this period is the longest defined in the literature. Long-term endocrine and hematologic follow-up of this patient up to 18 years old will also be presented.
RESUMEN
BACKGROUND: Hyperuricemia is a common complication in renal transplant recipients. Recent studies have suggested that hyperuricemia may contribute to the deterioration of graft function. METHODS: In this study, we aimed to investigate the risk factors related to hyperuricemia and the effects of hyperuricemia on graft dysfunction, graft survival, cardiovascular events, and mortality rates. Between the years 2005 and 2016, 141 renal transplantation patients with at least 5 years of follow-up were included in this retrospective cohort study. Multi-linear regression analysis was used to determine the relationship between mean serum uric acid level and estimated glomerular filtration rate (eGFR). RESULTS: The average transplant age was 37.1 ± 12.1 years and the average follow-up time was 83.09 ± 20.30 months; the prevalence of patients with hyperuricemia was 39 (27.6%). The mean uric acid levels were higher in women (P < .001) in the condition of dyslipidemia (P = .026), ß-blocker usage (P = .002), and thiazide diuretics (P = .020). Patients with hyperuricemia (P < .001), new-onset hypertension (P = .027), ß-blocker usage (P = .005), and thiazide diuretics (P = .040) had statistically different eGFR levels than other recipients. Multivariant regression analyses showed that eGFR levels after transplantation were correlated with mean uric acid levels (ß = -0.46, P = .001), donor age (ß = -0.18, P = .048), recipient age (ß = -0.28, P = .0003), and mean hemoglobin levels (ß = 0.31, P = .003). CONCLUSIONS: There was no difference in graft loss, general mortality, and cardiovascular events between normo-uricemic and hyperuricemic groups. Increased uric acid levels contribute to eGFR decline in patients with renal transplantation. On the other hand, effects of uric acid levels on graft survival, cardiovascular events, and general mortality are still controversial.