儿童KDS综合征诊治分析  

Diagnosis and treatment of KDS syndrome in children

作　　者：杨海花[1] YANG Hai-hua(Children's Hospital Affiliated to Zhengzhou University Henan Children's Hospital,Zhengzhou 450000,China)

机构地区：[1]郑州大学附属儿童医院,河南省儿童医院,郑州儿童医院内分泌遗传代谢科

出　　处：《医药论坛杂志》2019年第11期27-30,共4页Journal of Medical Forum

摘　　要：目的报道郑州大学附属儿童医院诊断的儿童KDS综合征患儿的临床特点,以引起临床重视。方法回顾性分析2017年在郑州大学附属儿童医院内分泌遗传代谢科诊断的1例KDS综合征患儿的临床资料,包括病史、实验室检查、影像学检查及随访结果。结果患儿6岁1个月,出生体重1.4kg,就诊时身高85.3cm,体重10.5 kg,头围46cm,2岁半会走路,5岁会叫"爷爷奶奶、爸爸妈妈",不会说其他词语,6岁时仍不会跳、不会跑;查体:发育落后,营养不良,全身皮肤黏膜干燥粗糙,面部多痣,面色苍黄,两侧颞部分别可见一大小约4cm 3cm 1cm膨出物,质软,无压痛。耳位稍高,鼻梁低平,口唇苍白,牙齿发育不良,有盾状胸,四肢及颈背部肌肉肥大,手足凉,双侧睾丸大小1.5 mL,阴茎长4.5cm,横径1.2cm,PH1期。实验室检查示促甲状腺激素(TSH)>100mIU/mL,三碘甲状腺原氨酸(TT3)0.496nmol/L,甲状腺素(TT4)14.09nmol/L,谷丙转氨酶(ALT)71.1U/L,谷草转氨酶(AST)192U/L,乳酸脱氢酶(LDH)1318U/L,肌酸激酶(CK)36150 U/L,肌酸激酶同工酶(CK-MB)350.2U/L,予以口服左甲状腺素片治疗后甲状腺功能逐渐恢复正常,CK明显下降。结论KDS综合征是长期处于甲状腺功能减退症后的一种并发症,是甲减肌病的一个亚型,早期诊断、规律治疗可以使肌酶随着甲状腺功能的改善而逐渐恢复正常。Objective To report the clinical characteristics of a child with KDS syndrome which was diagnosed in Children’s Hospital Affiliated to Zhengzhou University in order to arouse clinical attention.Methods The clinical data of a child with KDS syndrome diagnosed in our department in 2017 were retrospectively analyzed,including medical history,laboratory examination,imaging examination and follow-up results.Results The child was 6 year 1 month old,birth weight was 1.4 kg,now he is 85.3 cm in height,10.5 kg in weight,head circumference is 46 cm,he was able to walk at 2.5 y but can’t run or jump at 6 years.He can call"grandparents,dad,mom"at 5 y.Physical examination show poor development and malnutrition.His skin is dry and rough,there are several nevus on his face.We can see a lump about 4 cm 3 cm 1 cm which is soft and no tenderness on the two sides of the temporal region.Ear position is slightly higher,nasal bridge is low and flat,lips are pale,teeth are poorly developed,shielded chest,limbs and neck back muscles are hypertrophic,hands and feet are cool,bilateral testis size is 1.5 mL,penis is 4.5 cm 1.2 cm,PH1 stage.Laboratory tests showed that TSH>100 mIU/mL,TT30.496 nmol/L,TT414.09 nmol/L,ALT 71.1 U/L,AST 192 U/L,LDH 1318 U/L,CK 36150 U/L,CK-MB 350.2 U/L.After levothyroxine treatment,thyroid function gradually returned to normal and CK decreased significantly.Conclusion KDS syndrome is a subtype of hypothyroid myopathy.The signs and symptoms of hypothyroidism as well as the muscular pseudohypertrophy revert back to normal in due course of time after initiation of thyroxine supplementation.

关 键 词：儿童 甲状腺功能减退症 肌病 

分 类 号：R581.2[医药卫生—内分泌]