Johanson-Blizzard综合征一例及文献复习

Report of a case with Johanson-Blizzard syndrome and literatures review

目的 提高对Johanson-Blizzard综合征（JBS）的临床和诊断特点的认识.方法 讨论1例患儿的临床表现及诊断过程,运用基因检测的结果对诊断加以明确.并综合其他28例有详细临床资料的病例进行分析.结果 本例为女性,1岁9个月,以＂脂肪泻＂收治入院,出生后伴有肛门闭锁、鼻翼发育不全.现生长发育落后,智力发育落后,伴有头发稀疏及少牙畸形;便常规镜检脂肪球（＋＋）,血脂肪酶、淀粉酶及胰岛素、C肽水平偏低;腹部CT扫描见胰腺组织为脂肪组织替代;UBRI基因检测发现杂合错义突变,确诊JBS.在包括本例共计29例病例分析中,胰腺外分泌功能不全和鼻翼发育不全最为常见,分别为21例（72.4%）和27例（93%）;18例（62%）伴有生长发育异常;17例（59%）伴有神经性听觉减退或丧失;头皮缺损和头发稀疏或异常卷曲分别有20例（69%）和13例（44.8%）;甲状腺功能低下13例（44.8%）;牙齿畸形13例（44.8%）;肛门闭锁6例（21%）.但是近亲结婚并不常见（3/29,10.3%）.结论 JBS是一种罕见的、伴有独特先天性多发畸形的遗传性疾病,其特征表现是先天性胰腺外分泌不足伴有鼻翼发育不全或缺失,可以通过典型临床表现及UBRI基因检测加以明确.

Objective To study the clinical characteristics and diagnosis of the Johanson-Blizzard syndrome. Method The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of JohansonBlizzard syndrome with detailed clinical data were reviewed and analized. Result A one year and nine months old girl, who was initially admitted to the hospital because of fatty diarrhea and increased frequency of defecation. Imperforate anus, and aplastic alae nasi was noticed after birth. On physical examination,short stature, mental retardation, tooth abnormalities and scalp defects were observed. Fat globule was found by routine stool test. Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBRI gene analysis showed heterozygous for two missense changes. In all 29 cases, exocrine pancreatic insufficiency （ 72. 4% ） and hypoplasia of the alae nasi （ 93% ） were the most common clinical manifestations, and sensorineural hearing 1oss（59% ）, scalp defects （69%） and hair thinning or upsweep of the hair （44. 8% ）, hypothyroidism （44. 8% ）, absence of permanent teeth （44. 8% ）and imperforate anus（21% ） were also very common, but did not include consanguineous marriage of paerents（ 10. 3% ）. Conclusion Johanson-Blizzard syndrome is a rare autosomal recessive multisystem disorder, it is characterized by the association of congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings, and can be diagnosed by clinical characteristics and UBRI gene analysis.