Adzick N Scott, Thornton Paul S, Stanley Charles A, Kaye Robin D, Ruchelli Eduardo
Department of Surgery, and The Center for Hyperinsulinism, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
J Pediatr Surg. 2004 Mar;39(3):270-5. doi: 10.1016/j.jpedsurg.2003.11.019.
BACKGROUND/PURPOSE: Congenital hyperinsulinism (HI) causes severe hypoglycemia in neonates and infants. Recessive mutations of the beta-cell K(ATP) channel genes cause diffuse HI, whereas loss of heterozygosity together with inheritance of a paternal mutation cause focal adenomatous HI. Although these 2 forms of HI are clinically identical, focal HI can be cured surgically. The authors reviewed their experience with partial pancreatectomy for focal HI.
From December 1998 to January 2003, 38 patients (ages 2 weeks to 14 months; median age, 10 weeks) were treated with partial pancreatectomy for focal HI. Before surgery, patients had localization studies using selective arterial calcium stimulation with venous sampling or transhepatic portal venous sampling. At operation, the focal lesion was found using the preoperative localization data and multiple pancreatic biopsies with frozen section analysis, followed by partial pancreatectomy. A complete response at follow-up was defined as no requirement for glycemic medications, no continuous tube feedings, and no diabetes mellitus.
Nineteen pancreatic focal lesions were in the head; 15 were in the neck, body, or tail; and 4 had more extensive involvement. Lesions that required substantial resection of the pancreatic head underwent Roux-en-Y pancreaticojejunostomy to preserve the normal body and tail. Lesions of the body or tail were usually treated with partial distal pancreatectomy. Ninety-two percent (35 of 38) of patients had a complete response to surgery. Three patients have required glycemic medications. No patient is diabetic. Surgical complications included additional resection for residual disease (3), small bowel obstruction requiring laparotomy and enterolysis (2), and chylous ascites (3) that resolved with medical management.
A multidisciplinary approach to patients with the focal form of congenital hyperinsulinism can distinguish focal from diffuse disease, localize focal lesions, and permit partial pancreatectomy with cure in most patients.
背景/目的：先天性高胰岛素血症（HI）可导致新生儿和婴儿严重低血糖。β细胞K（ATP）通道基因的隐性突变会引起弥漫性HI，而杂合性缺失与父系突变遗传共同作用则会导致局灶性腺瘤样HI。尽管这两种形式的HI在临床上表现相同，但局灶性HI可通过手术治愈。作者回顾了他们采用部分胰腺切除术治疗局灶性HI的经验。
1998年12月至2003年1月，38例患者（年龄2周至14个月；中位年龄10周）接受了部分胰腺切除术治疗局灶性HI。术前，患者通过选择性动脉钙刺激静脉采血或经肝门静脉采血进行定位研究。手术时，利用术前定位数据和多次胰腺活检及冰冻切片分析找到局灶性病变，随后进行部分胰腺切除术。随访时完全缓解的定义为无需降糖药物治疗、无需持续鼻饲且无糖尿病。
19个胰腺局灶性病变位于胰头；15个位于颈部、体部或尾部；4个病变累及范围更广。需要对胰头进行大量切除的病变行Roux-en-Y胰空肠吻合术以保留胰体和胰尾。体部或尾部的病变通常采用远端胰腺部分切除术治疗。92%（38例中的35例）的患者手术完全缓解。3例患者需要降糖药物治疗。无患者患糖尿病。手术并发症包括因残留病灶而再次切除（3例）、需要剖腹探查和肠粘连松解术的小肠梗阻（2例）以及经药物治疗后缓解的乳糜腹水（3例）。
对于局灶性先天性高胰岛素血症患者，采用多学科方法可区分局灶性和弥漫性疾病，定位局灶性病变，并使大多数患者通过部分胰腺切除术得以治愈。
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