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SAT215 Sagliker Syndrome In A Filipino Female With End Stage Renal Disease

Disclosure: M.R. Pajanel: None. E. Clarito: None. K. Uytiepo: None. P. De La Peña: None. This is a case of a 29-year-old Filipina, with chronic kidney disease secondary to chronic glomerulonephritis, undergoing hemodialysis for 10 years. She presented with maxillary mass, associated with other crani...

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Autores principales: Rose Pajanel, Margarette, Lovelle Clarito, Eunice, Jan Uytiepo, Kristoffer, De La Peña, Pepito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554329/
http://dx.doi.org/10.1210/jendso/bvad114.512
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author Rose Pajanel, Margarette
Lovelle Clarito, Eunice
Jan Uytiepo, Kristoffer
De La Peña, Pepito
author_facet Rose Pajanel, Margarette
Lovelle Clarito, Eunice
Jan Uytiepo, Kristoffer
De La Peña, Pepito
author_sort Rose Pajanel, Margarette
collection PubMed
description Disclosure: M.R. Pajanel: None. E. Clarito: None. K. Uytiepo: None. P. De La Peña: None. This is a case of a 29-year-old Filipina, with chronic kidney disease secondary to chronic glomerulonephritis, undergoing hemodialysis for 10 years. She presented with maxillary mass, associated with other craniofacial deformities such as mandibular enlargement and widening of teeth spaces. Other associated symptoms include difficulty in swallowing solid food, difficulty in ambulation due to bone pains, and with noted shortening of stature. Workup revealed elevated intact parathyroid hormone (iPTH) 1638.8pg/mL(20x ULN), low Vitamin D, elevated ALP, but with normal levels of calcium and phosphorus. Sestamibi scan showed focal uptake and retention along medial aspect of the right thyroid bed and inferior to both thyroid beds suggestive of parathyroid adenoma or hyperplasia. Parathyroid ultrasound was consistent with findings of Sestamibi scan which also showed parathyroid nodules in the middle segment right thyroid lobe, and inferior to right thyroid lobe. Bone mineral density is below the expected range for age. Right parathyroidectomy was done and she was discharged well. She came in for follow-up with persistent elevated PTH 4765pg/ml(60x ULN), still with symptoms. Repeat imaging on ultrasound showed a parathyroid nodule posterior to the superior aspect of left thyroid 0.9 x0.5cm. Sestamibi scan confirmed a functioning parathyroid adenoma left inferior and superior thyroid bed. Left parathyroidectomy was done with a histopathologic result of left superior parathyroid consistent with parathyroid hyperplasia. On follow up, repeat intact PTH still elevated at 3677pg/mL and persistently elevated 2 months after at 3626pg/mL. Parathyroid ultrasound showed Parathyroid nodule, left, measuring 1.5x1.7x0.9 cm, inferior and posterior to the inferior border of the left thyroid gland. 99mTc-Sestamibi scan was consistent with the ultrasound in the left thyroid lobe suggestive of parathyroid adenomas or hyperplasia. Completion Parathyroidectomy was done on November 2018. Pre-operative iPTH was 4205pg/mL, which decreased to 291.3pg/mL postoperatively. She was discharged improved. On followup in 2022, she reports of decrease bone pain and now able to ambulate without difficulty. Repeat bone mineral density has improved and now within expected range for age. CONCLUSION: Sagliker syndrome is an entity described as an “uglyfying face syndrome” seen in patients with chronic kidney disease, presenting with facial deformities. Patients usually present with elevated parathyroid hormone (PTH) levels, and has been refractory to medical therapy. Surgical treatment has been the course of approach to prevent further clinical decline of patients. Identification of the syndrome is important for clinicians to know when to maximize medical management, and to identify patients who will benefit with early surgical management. The patient’s quality of life improved even 4 years post-surgery. Presentation: Saturday, June 17, 2023
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spelling pubmed-105543292023-10-06 SAT215 Sagliker Syndrome In A Filipino Female With End Stage Renal Disease Rose Pajanel, Margarette Lovelle Clarito, Eunice Jan Uytiepo, Kristoffer De La Peña, Pepito J Endocr Soc Bone And Mineral Metabolism Disclosure: M.R. Pajanel: None. E. Clarito: None. K. Uytiepo: None. P. De La Peña: None. This is a case of a 29-year-old Filipina, with chronic kidney disease secondary to chronic glomerulonephritis, undergoing hemodialysis for 10 years. She presented with maxillary mass, associated with other craniofacial deformities such as mandibular enlargement and widening of teeth spaces. Other associated symptoms include difficulty in swallowing solid food, difficulty in ambulation due to bone pains, and with noted shortening of stature. Workup revealed elevated intact parathyroid hormone (iPTH) 1638.8pg/mL(20x ULN), low Vitamin D, elevated ALP, but with normal levels of calcium and phosphorus. Sestamibi scan showed focal uptake and retention along medial aspect of the right thyroid bed and inferior to both thyroid beds suggestive of parathyroid adenoma or hyperplasia. Parathyroid ultrasound was consistent with findings of Sestamibi scan which also showed parathyroid nodules in the middle segment right thyroid lobe, and inferior to right thyroid lobe. Bone mineral density is below the expected range for age. Right parathyroidectomy was done and she was discharged well. She came in for follow-up with persistent elevated PTH 4765pg/ml(60x ULN), still with symptoms. Repeat imaging on ultrasound showed a parathyroid nodule posterior to the superior aspect of left thyroid 0.9 x0.5cm. Sestamibi scan confirmed a functioning parathyroid adenoma left inferior and superior thyroid bed. Left parathyroidectomy was done with a histopathologic result of left superior parathyroid consistent with parathyroid hyperplasia. On follow up, repeat intact PTH still elevated at 3677pg/mL and persistently elevated 2 months after at 3626pg/mL. Parathyroid ultrasound showed Parathyroid nodule, left, measuring 1.5x1.7x0.9 cm, inferior and posterior to the inferior border of the left thyroid gland. 99mTc-Sestamibi scan was consistent with the ultrasound in the left thyroid lobe suggestive of parathyroid adenomas or hyperplasia. Completion Parathyroidectomy was done on November 2018. Pre-operative iPTH was 4205pg/mL, which decreased to 291.3pg/mL postoperatively. She was discharged improved. On followup in 2022, she reports of decrease bone pain and now able to ambulate without difficulty. Repeat bone mineral density has improved and now within expected range for age. CONCLUSION: Sagliker syndrome is an entity described as an “uglyfying face syndrome” seen in patients with chronic kidney disease, presenting with facial deformities. Patients usually present with elevated parathyroid hormone (PTH) levels, and has been refractory to medical therapy. Surgical treatment has been the course of approach to prevent further clinical decline of patients. Identification of the syndrome is important for clinicians to know when to maximize medical management, and to identify patients who will benefit with early surgical management. The patient’s quality of life improved even 4 years post-surgery. Presentation: Saturday, June 17, 2023 Oxford University Press 2023-10-05 /pmc/articles/PMC10554329/ http://dx.doi.org/10.1210/jendso/bvad114.512 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Bone And Mineral Metabolism
Rose Pajanel, Margarette
Lovelle Clarito, Eunice
Jan Uytiepo, Kristoffer
De La Peña, Pepito
SAT215 Sagliker Syndrome In A Filipino Female With End Stage Renal Disease
title SAT215 Sagliker Syndrome In A Filipino Female With End Stage Renal Disease
title_full SAT215 Sagliker Syndrome In A Filipino Female With End Stage Renal Disease
title_fullStr SAT215 Sagliker Syndrome In A Filipino Female With End Stage Renal Disease
title_full_unstemmed SAT215 Sagliker Syndrome In A Filipino Female With End Stage Renal Disease
title_short SAT215 Sagliker Syndrome In A Filipino Female With End Stage Renal Disease
title_sort sat215 sagliker syndrome in a filipino female with end stage renal disease
topic Bone And Mineral Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554329/
http://dx.doi.org/10.1210/jendso/bvad114.512
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