Effects of three times weekly eight-hour nocturnal hemodialysis on volume and nutritional status.

BACKGROUND: This prospective cohort study compared the changes in body water composition and nutritional parameters measured with multifrequency bioimpedance analysis between 8-hour three times weekly nocturnal hemodialysis (NHD) and 4-hour conventional hemodialysis (CHD) patients. PATIENTS AND METHODS: 55 patients on CHD and 57 patients on NHD were included in the study. Multifrequency bioimpedance analysis was performed at baseline and at the 12th month. The primary outcomes of the study were changes in extracellular water (ECW), fat mass, dry lean mass and phase angle. Secondary outcomes of the study included changes in blood pressure and biochemical parameters related to nutrition and inflammation. RESULTS: ECW/height values decreased in the NHD group, while they increased in the CHD group. Fat mass, dry lean mass, and serum albumin increased and high sensitive CRP decreased in the NHD group but did not change in the CHD group. When changes in parameters from baseline to the 12th month between the groups were compared, NHD was associated with improvement in volume parameter including ECW/height (difference -0.44 l/m, p < 0.001). Change in blood pressure was not different between the groups, however requirement for antihypertensive medication decreased from 26.5 to 8.5% in the NHD group (p = 0.002). NHD was also associated with increases in fat mass (difference 1.8 kg, p < 0.001), dry lean mass (difference 0.6 kg, p = 0.006), serum albumin (difference 0.19 g/dl, p < 0.001) and cholesterol (difference 18.8 mg, p < 0.001). Phase angle values decreased in the CHD group but did not change in the NHD group (difference between the groups 0.37°, p = 0.04). CONCLUSION: This study revealed that longer HD facilitates volume control and improves nutritional status.

International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4.

Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13. Our syndrome could be a new syndrome in between SH, CKD, and hereditary bone dystrophies. We could not find chromosomal abnormalities in cytogenetics and on Ca SR gene exons 2 and 3. Interestingly, we did find promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. We finally thought that those catastrophic bone diseases were severe SH and its late treatments due to monetary deficiencies and iatrogenic mistreatments not started as early as possible. This was a sine qua non humanity task. Those brand new striking GNAS1 genes missense mutations have to be considered from now on for the genesis of SS.

International study on Sagliker syndrome and uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic kidney disease patients.

OBJECTIVE: It is known that skeletal changes due to secondary hyperparathyroidism (SH) can be severe in chronic kidney disease (CKD). Recently described Sagliker syndrome (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, short stature, extremely severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurological and, more important, severe psychological problems. DESIGN, SETTING, PATIENTS: In the past 8 years, we have encountered 40 cases of SS in SH and CKD by performing an international study in Turkey, India, Romania, Egypt, Maleysia, Tunis, and China. RESULTS: The medical history of these patients showed that they did not receive proper therapy. Changes, particularly in children and teenagers, become irreversible, which was disastrous for the patients both aesthetically and psychologically. CONCLUSION: Treatment must begin early and be the appropriate treatment given in centers with sophisticated skills. Otherwise, the inability to correct all the changes in the skull and face, to remodel a new face, to extending the height, and, most important, to convince the patients to face the dramatic psychological problems can be catastrophic for those patients.

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

Patients with chronic renal failure (CRF) often have signs and symptoms related to fluid and electrolyte disturbances, anemia, malnutrition, bone disease, and gastrointestinal problems. Vascular and neurologic impairment in particular remain an important source of morbidity and mortality in this vulnerable patient population. Sagliker syndrome is a novel syndrome that was recently described in 2004 in patients with CRF and severe and late secondary hyperparathyroidism who suffered from severe skull and facial bone changes, particularly from uglifying human face appearances and neuropsychiatric disorders. The goal of this study was to assess neuropsychiatric manifestations occurring in CRF patients with Sagliker syndrome. Four female and 8 male patients with CRF on regular dialysis at the hemodialysis units of the Internal Medicine Departments around southern Turkey participated in the study. All patients underwent a clinical neurologic examination performed by the same neurologist. Neuropsychiatric signs and symptoms were found in all cases. The results showed that the most frequent neurologic manifestations in CRF patients with Sagliker syndrome were headache, polyneuropathy, cranial neuropathy, fatigue, and psychiatric disorders.