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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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Autor principal: Konsam, Biona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
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
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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?
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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
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