The evaluation of uglyfying head and face appearances in late and severe secondary hyperparathyroidism in chronic renal disease

Aim: This study was designed for trying to explain the possible pathogenesis of secondary hyperparathyroidism which occurs in late and severe chronic renal disease as a unique entity called Sagliker syndrom. Our knowledge about skull and face differences in late and severe secondary hyperparathyroidism has stil been based on the thirty years earlier? s textbooks. This old definitions shows that there is a very big necessity for new investigations about secondary hyperparathyroidism.Material and Methods : Essentially this is an international study and contains 45 patients from different parts of the globe such as (Turkey, India, Maleysia, Romania, Egypt, China and Taiwan) and we only could include 15 patients who have arrived easily from our near region.We included 4 females and 11 males patient into our study. Serum samples taken from patients examined at Cukurova University Medical School Central Biochemistry Laboratory for parathyroid hormone, free T3 and T4, Thyroid Stimulating Hormone, calcitonin, alkalen phosphatase, calcium, phosphorus, Follicul Stimulating Hormone, Luteinizing Hormone, total testosteron and vitamin D . Evaluation of patients for osteoporosis was made by Cukurova University Medical School Radiology Department with bone densitometer device. We have taken additional serum samples from patients and their first degree relatives to investigate particularly major chromosom abnormalities by cytogenetic analyses. In an additional study we also have examined the same samples for GNAS 1 gene mutation which was published to be responsible for achondroplasies especially McCune-Albright syndrome. Both two studies were performed by Cukurova University Medical School Medical Biology and Genetic Department and Cukurova University Medical School Nephrology Department.Results: We have thought this wide and international study to continuefor four years. At first stage there was no striking results at all for vitamin D deficiency which has been so far thought to be responsible for bone deformities in Sagliker syndrome. Again at this stage of the study we didn?t find any thyroid function defect which could be responsible for growing deficiency for this syndrome. We didn?t also find any sex hormone disease that produce early cicatrization of epyphisis in this syndrome. But as expected we have shown osteoporosis which has been thought to be caused by secondary hyperparathyroidism almost in all syndrome patients. More importantly again at least at this early first stage we couldn? t find any chromosal abnormalities in patients and their first degree relatives in cytogenetical studies. And moreover lastly again as a second step we didn?t found GNAS 1 gene mutation in our patients at all.Discussion: This new entity called Sagliker syndrome was published in 2000 first for the frequency around % 0,5 in the mentionned poor and miserable patients. The exact causes of this entity are not totally understood yet and new studies are underway and going on about this goal. In our study we din?t find any preliminary chromosomal abnormality and GNAS 1 gene mutations. Almost all the hormonal and biochemical causes were ruled out by our study. This finding shows that we need some new studies at this subject to enlighten real pathogenesis. We thought the cause of osteoporosis and bone diseases in those patients was severe, late and untimingly late treatement modalities particularly due to monetary deficiencies, sosyoechonomic insufficiencies and moreover unwanted ?innocent but unfortunately iatrogenical mistreatments for secondary hyperparathyroidism. Treatments must start as early and proper as possible by the squiled personel in sophisticated medical centers with the most advanced technologically designed medical novel tools. And this is a sine qua non humanity task.Key words : Chronic renal disease, secondary hyperparathyroidism, Sagliker syndrome, endocrinologic abnormalities, densitometric studies, cytogenetic analyses, GNAS 1 gene mutation.