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D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity
19 years old gentleman presented with deformity of lower limbs noticed two years back. Significant past h/o jaundice at 8 years of age, h/o fracture of right femur at 17 years of age following fall from bicycle and an atraumatic fracture at the same site one year later. He underwent cataract surgery...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067846/ http://dx.doi.org/10.4103/2230-8210.342157 |
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author | Konsam, Biona |
author_facet | Konsam, Biona |
author_sort | Konsam, Biona |
collection | PubMed |
description | 19 years old gentleman presented with deformity of lower limbs noticed two years back. Significant past h/o jaundice at 8 years of age, h/o fracture of right femur at 17 years of age following fall from bicycle and an atraumatic fracture at the same site one year later. He underwent cataract surgery one year back where he was found to have bilateral renal stone disease with elevated creatinine. He had short stature with scoliosis and apparent genu valgum on right. Biochemical evaluation showed CrCl of 40 ml/min/m(2) with increased liver enzymes. He had hypophosphatemia with low-normal s.calcium, elevated ALP, elevated PTH (242 pg/ml) and normal 25(OH)D3. Urine evaluation showed impaired acidification along with glycosuria and phosphaturia in the presence of systemic acidosis and normoglycemia. Skeletal survey showed generalized rarefaction; DXA showed osteopenia. MBD secondary to RTA was considered. Ultrasound showed coarsened liver echotexture. Suspecting Wilson's disease, s.ceruloplamin and 24hrs urinary copper was done but was normal and KF ring was absent. Therefore, liver biopsy was done suggesting chronic hepatitis with dry weight copper of 127.23 mcg/gm (normal < 45 mcg/g) which was <4ULN needed for diagnosis. Can the diagnosis of Wilson's disease be made from the above findings or else, any alternative diagnosis to be considered? |
format | Online Article Text |
id | pubmed-9067846 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-90678462022-05-05 D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity Konsam, Biona Indian J Endocrinol Metab Meet the Expert Cases…esicon 2021 19 years old gentleman presented with deformity of lower limbs noticed two years back. Significant past h/o jaundice at 8 years of age, h/o fracture of right femur at 17 years of age following fall from bicycle and an atraumatic fracture at the same site one year later. He underwent cataract surgery one year back where he was found to have bilateral renal stone disease with elevated creatinine. He had short stature with scoliosis and apparent genu valgum on right. Biochemical evaluation showed CrCl of 40 ml/min/m(2) with increased liver enzymes. He had hypophosphatemia with low-normal s.calcium, elevated ALP, elevated PTH (242 pg/ml) and normal 25(OH)D3. Urine evaluation showed impaired acidification along with glycosuria and phosphaturia in the presence of systemic acidosis and normoglycemia. Skeletal survey showed generalized rarefaction; DXA showed osteopenia. MBD secondary to RTA was considered. Ultrasound showed coarsened liver echotexture. Suspecting Wilson's disease, s.ceruloplamin and 24hrs urinary copper was done but was normal and KF ring was absent. Therefore, liver biopsy was done suggesting chronic hepatitis with dry weight copper of 127.23 mcg/gm (normal < 45 mcg/g) which was <4ULN needed for diagnosis. Can the diagnosis of Wilson's disease be made from the above findings or else, any alternative diagnosis to be considered? Wolters Kluwer - Medknow 2022-03 /pmc/articles/PMC9067846/ http://dx.doi.org/10.4103/2230-8210.342157 Text en Copyright: © 2022 Indian Journal of Endocrinology and Metabolism https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Meet the Expert Cases…esicon 2021 Konsam, Biona D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity |
title | D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity |
title_full | D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity |
title_fullStr | D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity |
title_full_unstemmed | D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity |
title_short | D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity |
title_sort | d1 mte1 case 2: young male with chronic hepatitis and bony deformity |
topic | Meet the Expert Cases…esicon 2021 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067846/ http://dx.doi.org/10.4103/2230-8210.342157 |
work_keys_str_mv | AT konsambiona d1mte1case2youngmalewithchronichepatitisandbonydeformity |