[Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children]. / Congenitaal hyperinsulinisme in Noordoost-Nederland. Klinische kenmerken en DNA-diagnostiek bij 22 kinderen.

OBJECTIVE: To describe the clinical features and relevant genetic mutations in 22 children with congenital hyperinsulinism in the north-east Netherlands. DESIGN: Retrospective, descriptive study. METHOD: Children born between June 1988 and June 2009, who were presented at the academic medical centres of Nijmegen and Groningen were included. They were clinically suspected of having congenital hyperinsulinism and DNA diagnostics were carried out. Clinical course, laboratory results, genetic data, interventions, follow-up data and patient demographics were documented. RESULTS: A total of 22 children from 20 families were included. Of these 22 children, 5 were born macrosomic. In 16 children the disorder was picked up within the first 4 days of life either through glucose screening of premature children or because they had symptoms. All children were treated with diazoxide; 12 (55%) did not respond to this treatment. Ultimately, 9 children underwent pancreatectomy. Five children had focal type congenital hyperinsulinism. In 15 children 13 different mutations were identified in relevant genes. We found 9 different mutations in the ABCC8-gene, including 2 novel mutations (c.2117-2A>T and c.4076C>G), 1 in the KCNJ11 gene, 1 in the GCK gene, and 2 in the GLUD1 gene. In the villages of Aalten and Silvolde a high prevalence of congenital hyperinsulinism was observed (1 in 6930), probably due to a common ancestor. CONCLUSION: The clinical characteristics of Dutch children with congenital hyperinsulinism were comparable with those reported in other study populations. We found two novel mutations in the ABCC8 gene. The mutations in the north-east Netherlands were diverse; no one mutation occurred more frequently than any other.

Endovenous laser therapy of the small saphenous vein: patient satisfaction and short-term results.

OBJECTIVE: Conventional surgical treatment for small saphenous vein (SSV) reflux is associated with high recurrence rates and complications. Endovenous laser ablation (EVLA) is a treatment modality with promising results. This study reports patient satisfaction and short-term results after EVLA of SSV reflux. METHODS: Fifty-two legs of 49 consecutive patients were treated with EVLA for reflux of the SSV. Patients were investigated clinically and by duplex scanning before and 6 weeks after treatment. Patient records were studied and a questionnaire was completed. RESULTS: Technical success was accomplished in all patients. After 6 weeks the occlusion rate was 100% and after 6.5 months no recurrent varicosities were reported. Complications consisted of bruising (51%), induration (39%), delayed tightness (16%), phlebitis (2%), and temporary paresthesia (6%) and were all self-limiting. One deep venous thrombosis occurred in a patient with a protein C deficiency. Ninety-two percent (45/49) of patients were satisfied with the results and in 98% symptoms had significantly improved or completely disappeared. Working activities were resumed after a mean of 4 days. Forty-three patients (88%) would consider having endovenous laser treatment again if indicated. CONCLUSIONS: EVLA of the SSV seems to be a safe modality with excellent short-term results and high patient satisfaction. Controlled studies assessing the effectiveness of EVLA in comparison to conventional treatment of SSV reflux are crucial before considering EVLA as the standard treatment.