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在丑面容综合征(一种使慢性肾病患者面部容貌变丑的病症)中,仅仅存活就足以保证生活质量吗?

Is survival enough for quality of life in Sagliker Syndrome-uglifying human face appearances in chronic kidney disease?

作者信息

Sagliker Yahya, Acharya Vidya, Golea Ovidia, Sabry Alaa, Bali Musa, Eyupoglu Kamil, Ookalkar Dhananjay, Tapiawala Shruti, Durugkar Santosh, Khetan Prakash, Capusa Cristina, Univar Ramazan, Yildiz Ismail, Cengiz Kuddisi, Akar Harun, Yenicerioglu Yavuz, Sagliker Ozkaynak Piril, Sabit Sagliker Hasan, Paylar Nuray

机构信息

Division of Nephrology, Cukurova University, Ziya Pasa Bulvari, Sun Sinema Yani, Adana, Turkey.

出版信息

J Nephrol. 2008 Mar-Apr;21 Suppl 13:S134-8.

PMID:18446747
Abstract

BACKGROUND

It is known that secondary hyperparathyroidism (SH) and particularly skeletal changes is a severe condition in chronic kidney disease (CKD). Sagliker syndrome (SS) is a very prominent feature in CKD including uglifying human face appearances, short stature, extremely severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, finger tip changes and severe psychological problems.

METHODS

In the last 8 years we have confronted 36 extremely incredible SS cases in CKD by performing an international study in Turkey, India, Malaysia, Romania and Egypt.

RESULTS

In addition to the uglifying human face appearance, we found extremely severe X-ray and tomographical, pantomographical, histo-pathological changes in the head and whole body. Finally, we compared previous face pictures with recent ones. Just a few years earlier they had been pretty and good-looking young boys and girls. By investigating their history, we understood they had not received proper therapy and were in the late-irreversible period.

CONCLUSION

SS is a serious and severe complication of CKD. Late and improper treatment leads to abnormalities throughout skeleton particularly in the skull and face. Changes particularly in children and teens become irreversible-disastrous for appearance and psychological health. Appropriate treatment must begin as early as possible in specialized centers. It is possible that SS patients may survive long-term with dialysis, but with all those particular changes could anyone claim this type of life would continue in an acceptable way without extending their height, correcting all the changes in the skull and face, remodeling new faces and most particularly convincing the patients to deal with all those tragi-dramatic psychological problems?

摘要

背景

已知继发性甲状旁腺功能亢进(SH),尤其是骨骼变化,是慢性肾脏病(CKD)中的一种严重病症。萨利克综合征(SS)是CKD中一个非常突出的特征,包括面容丑陋、身材矮小、上颌和下颌极其严重的变化、口腔软组织、牙齿 - 牙异常、指尖变化以及严重的心理问题。

方法

在过去8年里,我们通过在土耳其、印度、马来西亚、罗马尼亚和埃及开展一项国际研究,遇到了36例CKD中极其罕见的SS病例。

结果

除了面容丑陋外,我们还发现头部和全身有极其严重的X线、断层扫描、全景X线摄影、组织病理学变化。最后,我们将之前的面部照片与近期照片进行了对比。就在几年前,他们还是容貌俊俏的年轻男孩和女孩。通过调查他们的病史,我们了解到他们没有得到恰当的治疗,已处于晚期不可逆阶段。

结论

SS是CKD一种严重的并发症。治疗延迟和不当会导致整个骨骼出现异常,尤其是颅骨和面部。这些变化,特别是在儿童和青少年中,会变得不可逆转,对外观和心理健康造成灾难性影响。必须尽早在专业中心开始进行恰当治疗。SS患者通过透析有可能长期存活,但有了所有这些特殊变化,有谁能声称这种生活能在不增加身高、矫正颅骨和面部所有变化、重塑新面容,尤其是说服患者应对所有这些悲惨的心理问题的情况下以可接受的方式继续下去呢?

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