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

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?

Sagliker syndrome: uglifying human face appearance in late and severe secondary hyperparathyroidism in chronic renal failure.

Almost every patient with chronic renal failure (CRF) eventually develops secondary hyperparathyroidism (SH) unless they are treated with proper and novel medications in advanced medical centers by skilled medical personnel. Every kind of bone abnormality including skull deformities has been described in detail by almost every concerned researcher and textbook, but descriptions of this phenomenon are limited in the medical literature to the years from 1973 to 1977. To our knowledge, extensive data regarding uglifying human face appearances have not been defined so far in the literature. We are therefore making this addition to the clinical nephrology field by accumulating such data. After we found 2 consecutive peculiar and unique patients with uglifying human face appearances in 2000, we attempted to inform and draw attention to this new entity to all hemodialysis (HD) centers in Turkey, as well as in other developing countries around the world to collect data on this phenomenon. Accordingly, we visited dialysis centers and patients' houses to collect detailed information, including medical clinical histories, physical examinations, laboratory data, biographies, current medications, and so forth. We found 25 patients who had CRF, SH, short stature, extremely severe skull changes, maxillary and mandibular bone changes, teeth/dental abnormalities, and soft and innocuous tumoral tissues in the mouth (hence, uglifying the appearance of the face), fingertip changes, severe psychologic problems, and depression. It appears that patients with CRF may have a new syndrome of bone deformities that have long been neglected, ignored, and forgotten since the mid-1970s when they were first described. This is vital and critical information for the clinical status of patients who suffered from the syndrome that we have named Sagliker syndrome (SS), and we believe there are many more patients in the world who are suffering from it.