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

Semin Nephrol. 2004 Sep;24(5):449-55. doi: 10.1016/j.semnephrol.2004.06.021.

Abstract

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.

MeSH terms

  • Abnormalities, Multiple*
  • Age Factors
  • Child
  • Face / abnormalities*
  • Facial Bones / abnormalities*
  • Female
  • Humans
  • Hyperparathyroidism, Secondary / complications*
  • Kidney Failure, Chronic / complications*
  • Male
  • Severity of Illness Index
  • Syndrome