ABSTRACT
AIM: PAX6 is a transcription factor involved in embryonic development of many organs, including the eyes and the pancreas. Mutations of PAX6 gene is the main cause of a rare disease, congenital aniridia (CA). This case-control study aims to investigate the effects of PAX6 mutations on glucose metabolism and insulin secretion in families with CA. METHODS: In all, 21 families with CA were screened by Sanger sequencing. Patients with PAX6 mutations and CA (cases) and age-matched healthy family members (controls) were enrolled. Oral glucose tolerance test (OGTT) was performed to detect diabetes or impaired glucose tolerance (IGT). Insulin and proinsulin secretion were evaluated. RESULTS: Among 21 CA families, heterozygous PAX6 mutations were detected in five families. Among cases (n = 10) from the five families, two were diagnosed with newly identified diabetes and another two were diagnosed with IGT. Among controls (n = 12), two had IGT. The levels of haemoglobin A1c were 36 ± 4 mmol/mol (5.57 ± 0.46%) and 32 ± 5 mmol/L (5.21 ± 0.54%) in the cases and the controls, respectively (p = 0.049). More importantly, levels of proinsulin in the cases were significantly higher than that of the controls, despite similar levels of total insulin. The areas under the curve of proinsulin in the cases (6425 ± 4390) were significantly higher than that of the controls (3709 ± 1769) (p = 0.032). CONCLUSION: PAX6 may participate in the production of proinsulin to insulin and heterozygous PAX6 mutations may be associated with glucose metabolism in CA patients.
Subject(s)
Aniridia/genetics , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus/genetics , Glucose Intolerance/genetics , PAX6 Transcription Factor/genetics , Adult , C-Peptide/metabolism , Case-Control Studies , Diabetes Mellitus/metabolism , Diabetes Mellitus, Type 2/metabolism , Female , Glucose Intolerance/metabolism , Glycated Hemoglobin/metabolism , Heterozygote , Humans , Insulin/metabolism , Male , Middle Aged , Mutation , Proinsulin/metabolismABSTRACT
BACKGROUND: No population-based assessment of the prevalence and incidence of pediatric glaucoma in China are available. Here we describe the spectrum of hospitalized pediatric glaucoma patients in Beijing Tongren Hospital in China. METHODS: We reviewed the charts of pediatric patients, from birth to 18 years old, with a discharge diagnosis of glaucoma in Beijing Tongren Hospital, from 2002 to 2008. All children were admitted for anti-glaucoma surgery, treating the sequelae of the glaucoma, or managing postoperative complications. We evaluated the demographic characteristics and the proportion of different glaucoma subtypes. RESULTS: Pediatric patients (n = 1452) accounted for 12.91% of the total glaucoma in-patients from 2002 to 2008, and at last data of pediatric glaucoma were presented for 1055 children who came from 28 provinces, municipalities and autonomous regions in China. Boys were more common in all subtypes and at all ages, with a total ratio of boys to girls of 2.32:1. Congenital glaucoma was the most common subtype, accounting for 46.07% in all patients and accounting for 69.95% in children under 3 years of age. The median presenting age of congenital glaucoma patients was 2 years. Patients with traumatic glaucoma were the second most common group (n = 128, 12.13%), and presented at older age (the median presenting age was 11 years). The majority of traumatic glaucoma occurred in children between 10 and 15 years of age (n = 72, 56.25%). Aphakic glaucoma was the third most common (9.19%) subtype. CONCLUSIONS: Congenital glaucoma is the most prevalent glaucoma subtype in hospitalized pediatric patients in Beijing Tongren Hospital. The prevention and treatment of traumatic glaucoma can reduce the incidence of visual damage in developing countries. Close follow-up for glaucoma is important after pediatric cataract surgery.
