<p>Sagliker syndrome is seen to develop in patients with end stage renal disease at an age below forty years because of undiagnosed, untreated or inadequately treated secondary hyperparathyroidism at earlier stages of chronic kidney disease. Missense mutations at the genetic level have been researched to be a potential factor in inducing the pathophysiology of the syndrome. Patients with Sagliker syndrome develop short stature, maxillary and mandibular deformities with bone overgrowth, irregular spacing between teeth, hypertrophy of lips, auditory loss, neurological complications and psychological problems. Lytic non neoplastic bone lesions called Brown tumors are formed due to abnormal bone metabolism. Increase in parathormone levels, alkaline phosphatase levels and inorganic phosphate levels are marked. Anemia as a result of reduced erythropoietin synthesis due to chronic kidney disease, Vitamin D deficiency are also present in such patients Our patient was a 23 year old Indian male who remained undiagnosed and untreated for Sagliker syndrome and was undergoing dialysis only for chronic kidney disease, had come with all major signs and symptoms mentioned above. Surgical modalities involving total parathyroidectomy along with autotransplatation at early stages of chronic kidney disease with secondary hyperparathyroidism remains the best treatment option to prevent Sagliker syndrome.</p>

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An Undiagnosed Case of Sagliker Syndrome in Rural India Undergoing Hemodialysis

  • Avishek De Sarkar,
  • Amit Ray,
  • Anupam Sarkar,
  • Kavita Manchanda

摘要

Sagliker syndrome is seen to develop in patients with end stage renal disease at an age below forty years because of undiagnosed, untreated or inadequately treated secondary hyperparathyroidism at earlier stages of chronic kidney disease. Missense mutations at the genetic level have been researched to be a potential factor in inducing the pathophysiology of the syndrome. Patients with Sagliker syndrome develop short stature, maxillary and mandibular deformities with bone overgrowth, irregular spacing between teeth, hypertrophy of lips, auditory loss, neurological complications and psychological problems. Lytic non neoplastic bone lesions called Brown tumors are formed due to abnormal bone metabolism. Increase in parathormone levels, alkaline phosphatase levels and inorganic phosphate levels are marked. Anemia as a result of reduced erythropoietin synthesis due to chronic kidney disease, Vitamin D deficiency are also present in such patients Our patient was a 23 year old Indian male who remained undiagnosed and untreated for Sagliker syndrome and was undergoing dialysis only for chronic kidney disease, had come with all major signs and symptoms mentioned above. Surgical modalities involving total parathyroidectomy along with autotransplatation at early stages of chronic kidney disease with secondary hyperparathyroidism remains the best treatment option to prevent Sagliker syndrome.