Skip to main content
Top
Published in: Calcified Tissue International 5/2019

01-11-2019 | Wilson's Disease | Original Research

Renal Tubular Function, Bone Health and Body Composition in Wilson’s Disease: A Cross-Sectional Study from India

Authors: Nitin Kapoor, Kripa Elizabeth Cherian, Kattiparambil G. Sajith, Maya Thomas, Chundamannil E. Eapen, Nihal Thomas, Thomas V. Paul

Published in: Calcified Tissue International | Issue 5/2019

Login to get access

Abstract

There is limited literature from India with regard to the prevalence and magnitude of renal tubular and bone manifestations in Wilson’s disease (WD). Thus, we studied the prevalence of renal tubular acidosis among Indian patients with WD and also evaluated bone health and body composition in them. It was a cross-sectional study conducted at a south Indian tertiary care center. Twenty-five consecutive patients with WD aged more than 12 years attending the hepatology and neurology departments and 50 age, sex and BMI-matched controls were recruited. After clinical assessment, they underwent biochemical testing to assess renal tubular dysfunction. Bone mineral density (BMD) and body composition were assessed using a dual energy X-ray absorptiometry (DXA) scanner. Fifty-six percent (14/25) of patients with WD had renal tubular acidosis (RTA). Of them, 24% were diagnosed to have distal RTA. RTA was more common in hepatic WD patients who had prolonged duration of illness. Patients with WD had significantly lower BMD as compared to control subjects (p < 0.05). Low BMI, low IGF-1 and a shorter duration of therapy were key determinants of low bone mass in them (p < 0.05). Patients with WD had significantly more body fat (p = 0.01) and lower lean muscle mass (p = 0.03) when compared to age, sex and BMI-matched controls. In conclusion, renal tubular acidosis was common in patients with Wilson’s disease. These patients had a lower bone mineral density, higher body fat percentage and lower lean muscle mass as compared to controls.
Literature
1.
go back to reference Patil M, Sheth KA, Krishnamurthy AC, Devarbhavi H (2013) A review and current perspective on Wilson disease. J Clin Exp Hepatol 3(4):321–336CrossRef Patil M, Sheth KA, Krishnamurthy AC, Devarbhavi H (2013) A review and current perspective on Wilson disease. J Clin Exp Hepatol 3(4):321–336CrossRef
2.
go back to reference Tarnacka B, Rodo M, Cichy S, Członkowska A (2000) Procreation ability in Wilson’s disease. Acta Neurol Scand 101(6):395–398CrossRef Tarnacka B, Rodo M, Cichy S, Członkowska A (2000) Procreation ability in Wilson’s disease. Acta Neurol Scand 101(6):395–398CrossRef
3.
go back to reference Kapoor N, Chapla A, Furler J, Paul TV, Harrap S, Oldenburg B et al (2019) Genetics of obesity in consanguineous populations—a road map to provide novel insights in the molecular basis and management of obesity. EBioMedicine 40:33–34CrossRef Kapoor N, Chapla A, Furler J, Paul TV, Harrap S, Oldenburg B et al (2019) Genetics of obesity in consanguineous populations—a road map to provide novel insights in the molecular basis and management of obesity. EBioMedicine 40:33–34CrossRef
4.
go back to reference Mamidala MP, Kalikiri MK, Praveen Kumar PTV, Rajesh N, Vallamkonda OR, Rajesh V (2015) Consanguinity in India and its association with autism spectrum disorder. Autism Res 8(2):224–228CrossRef Mamidala MP, Kalikiri MK, Praveen Kumar PTV, Rajesh N, Vallamkonda OR, Rajesh V (2015) Consanguinity in India and its association with autism spectrum disorder. Autism Res 8(2):224–228CrossRef
5.
go back to reference Kelly C, Pericleous M (2018) Wilson disease: more than meets the eye. Postgrad Med J 94(1112):335–347CrossRef Kelly C, Pericleous M (2018) Wilson disease: more than meets the eye. Postgrad Med J 94(1112):335–347CrossRef
6.
go back to reference Weiss KH, Van de Moortele M, Gotthardt DN, Pfeiffenberger J, Seessle J, Ullrich E et al (2015) Bone demineralisation in a large cohort of Wilson disease patients. J Inherit Metab Dis 38(5):949–956CrossRef Weiss KH, Van de Moortele M, Gotthardt DN, Pfeiffenberger J, Seessle J, Ullrich E et al (2015) Bone demineralisation in a large cohort of Wilson disease patients. J Inherit Metab Dis 38(5):949–956CrossRef
7.
go back to reference Domrongkitchaiporn S, Pongsakul C, Stitchantrakul W, Sirikulchayanonta V, Ongphiphadhanakul B, Radinahamed P et al (2001) Bone mineral density and histology in distal renal tubular acidosis. Kidney Int 59(3):1086–1093CrossRef Domrongkitchaiporn S, Pongsakul C, Stitchantrakul W, Sirikulchayanonta V, Ongphiphadhanakul B, Radinahamed P et al (2001) Bone mineral density and histology in distal renal tubular acidosis. Kidney Int 59(3):1086–1093CrossRef
8.
go back to reference Binu AJ, Cherian KE, Kapoor N, Thomas N, Paul TV (2018) Referral pattern for DXA scanning in a tertiary care centre from southern India. Arch Osteoporos 13(1):133CrossRef Binu AJ, Cherian KE, Kapoor N, Thomas N, Paul TV (2018) Referral pattern for DXA scanning in a tertiary care centre from southern India. Arch Osteoporos 13(1):133CrossRef
9.
go back to reference Ghosh L, Shah M, Pate S, Mannari J, Sharma K (2012) Wilson’s disease presenting with hypokalemia, hypoparathyroidism and renal failure. J Assoc Phys India 60:57–59 Ghosh L, Shah M, Pate S, Mannari J, Sharma K (2012) Wilson’s disease presenting with hypokalemia, hypoparathyroidism and renal failure. J Assoc Phys India 60:57–59
10.
go back to reference Roberts EA (2018) Update on the diagnosis and management of Wilson disease. Curr Gastroenterol Rep 20(12):56CrossRef Roberts EA (2018) Update on the diagnosis and management of Wilson disease. Curr Gastroenterol Rep 20(12):56CrossRef
11.
go back to reference Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007) Wilson’s disease. Lancet Lond Engl 369(9559):397–408CrossRef Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007) Wilson’s disease. Lancet Lond Engl 369(9559):397–408CrossRef
12.
go back to reference Marshall WA, Tanner JM (1969) Variations in pattern of pubertal changes in girls. Arch Dis Child 44(235):291–303CrossRef Marshall WA, Tanner JM (1969) Variations in pattern of pubertal changes in girls. Arch Dis Child 44(235):291–303CrossRef
13.
go back to reference Marshall WA, Tanner JM (1970) Variations in the pattern of pubertal changes in boys. Arch Dis Child 45(239):13–23CrossRef Marshall WA, Tanner JM (1970) Variations in the pattern of pubertal changes in boys. Arch Dis Child 45(239):13–23CrossRef
14.
go back to reference Bagga A, Sinha A (2007) Evaluation of renal tubular acidosis. Indian J Pediatr 74(7):679–686CrossRef Bagga A, Sinha A (2007) Evaluation of renal tubular acidosis. Indian J Pediatr 74(7):679–686CrossRef
15.
go back to reference Walton RJ, Bijvoet OL (1975) Nomogram for derivation of renal threshold phosphate concentration. Lancet Lond Engl 2(7929):309–310CrossRef Walton RJ, Bijvoet OL (1975) Nomogram for derivation of renal threshold phosphate concentration. Lancet Lond Engl 2(7929):309–310CrossRef
17.
go back to reference Krishnamoorthy S, Audinarayana N (2001) Trends in consanguinity in south India. J Biosoc Sci 33(2):185–197CrossRef Krishnamoorthy S, Audinarayana N (2001) Trends in consanguinity in south India. J Biosoc Sci 33(2):185–197CrossRef
18.
go back to reference Tesar V, Mokrejsová M, Marecek Z, Petrtýl J (1991) Distal renal tubular acidosis in patients with Wilson’s disease. Sb Lek 93(9–10):315–323PubMed Tesar V, Mokrejsová M, Marecek Z, Petrtýl J (1991) Distal renal tubular acidosis in patients with Wilson’s disease. Sb Lek 93(9–10):315–323PubMed
19.
go back to reference Dastur DK, Manghani DK, Wadia NH (1968) Wilson’s disease in India. I. Geographic, genetic, and clinical aspects in 16 families. Neurology 18(1):21–31CrossRef Dastur DK, Manghani DK, Wadia NH (1968) Wilson’s disease in India. I. Geographic, genetic, and clinical aspects in 16 families. Neurology 18(1):21–31CrossRef
20.
go back to reference Boga S, Ala A, Schilsky ML (2017) Hepatic features of Wilson disease. Handb Clin Neurol 142:91–99CrossRef Boga S, Ala A, Schilsky ML (2017) Hepatic features of Wilson disease. Handb Clin Neurol 142:91–99CrossRef
21.
go back to reference Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Chandy M et al (2006) ATP7B mutations in families in a predominantly southern Indian cohort of Wilson’s disease patients. Indian J Gastroenterol 25(6):277–282PubMed Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Chandy M et al (2006) ATP7B mutations in families in a predominantly southern Indian cohort of Wilson’s disease patients. Indian J Gastroenterol 25(6):277–282PubMed
22.
go back to reference Reddy GS, Jones G, Kooh SW, Fraser D (1982) Inhibition of 25-hydroxyvitamin D3-1-hydroxylase by chronic metabolic acidosis. Am J Physiol 243(4):E265–E271PubMed Reddy GS, Jones G, Kooh SW, Fraser D (1982) Inhibition of 25-hydroxyvitamin D3-1-hydroxylase by chronic metabolic acidosis. Am J Physiol 243(4):E265–E271PubMed
24.
go back to reference Kim CJ (2011) Vitamin D dependent rickets type I. Korean J Pediatr 54(2):51–54CrossRef Kim CJ (2011) Vitamin D dependent rickets type I. Korean J Pediatr 54(2):51–54CrossRef
25.
go back to reference Cunningham J, Fraher LJ, Clemens TL, Revell PA, Papapoulos SE (1982) Chronic acidosis with metabolic bone disease. Effect of alkali on bone morphology and vitamin D metabolism. Am J Med 73(2):199–204CrossRef Cunningham J, Fraher LJ, Clemens TL, Revell PA, Papapoulos SE (1982) Chronic acidosis with metabolic bone disease. Effect of alkali on bone morphology and vitamin D metabolism. Am J Med 73(2):199–204CrossRef
26.
go back to reference Quemeneur A-S, Trocello J-M, Ea H-K, Ostertag A, Leyendecker A, Duclos-Vallée J-C et al (2014) Bone status and fractures in 85 adults with Wilson’s disease. Osteoporos Int 25(11):2573–2580CrossRef Quemeneur A-S, Trocello J-M, Ea H-K, Ostertag A, Leyendecker A, Duclos-Vallée J-C et al (2014) Bone status and fractures in 85 adults with Wilson’s disease. Osteoporos Int 25(11):2573–2580CrossRef
27.
go back to reference Chenbhanich J, Thongprayoon C, Atsawarungruangkit A, Phupitakphol T, Cheungpasitporn W (2018) Osteoporosis and bone mineral density in patients with Wilson’s disease: a systematic review and meta-analysis. Osteoporos Int 29(2):315–322CrossRef Chenbhanich J, Thongprayoon C, Atsawarungruangkit A, Phupitakphol T, Cheungpasitporn W (2018) Osteoporosis and bone mineral density in patients with Wilson’s disease: a systematic review and meta-analysis. Osteoporos Int 29(2):315–322CrossRef
28.
go back to reference Handzlik-Orlik G, Holecki M, Wilczyński K, Duława J (2016) Osteoporosis in liver disease: pathogenesis and management. Ther Adv Endocrinol Metab 7(3):128–135CrossRef Handzlik-Orlik G, Holecki M, Wilczyński K, Duława J (2016) Osteoporosis in liver disease: pathogenesis and management. Ther Adv Endocrinol Metab 7(3):128–135CrossRef
29.
go back to reference Selimoglu MA, Ertekin V, Doneray H, Yildirim M (2008) Bone mineral density of children with Wilson disease: efficacy of penicillamine and zinc therapy. J Clin Gastroenterol 42(2):194–198CrossRef Selimoglu MA, Ertekin V, Doneray H, Yildirim M (2008) Bone mineral density of children with Wilson disease: efficacy of penicillamine and zinc therapy. J Clin Gastroenterol 42(2):194–198CrossRef
30.
go back to reference Raj JP, Oommen AM, Paul TV (2015) Dietary calcium intake and physical activity levels among urban south Indian postmenopausal women. J Fam Med Prim Care 4(3):461–464CrossRef Raj JP, Oommen AM, Paul TV (2015) Dietary calcium intake and physical activity levels among urban south Indian postmenopausal women. J Fam Med Prim Care 4(3):461–464CrossRef
31.
go back to reference Balk EM, Adam GP, Langberg VN, Earley A, Clark P, Ebeling PR et al (2017) Global dietary calcium intake among adults: a systematic review. Osteoporos Int 28(12):3315–3324CrossRef Balk EM, Adam GP, Langberg VN, Earley A, Clark P, Ebeling PR et al (2017) Global dietary calcium intake among adults: a systematic review. Osteoporos Int 28(12):3315–3324CrossRef
32.
go back to reference Paul TV, Thomas N, Seshadri MS, Oommen R, Jose A, Mahendri NV (2008) Prevalence of osteoporosis in ambulatory postmenopausal women from a semiurban region in southern India: relationship to calcium nutrition and vitamin D status. Endocr Pract 14(6):665–671CrossRef Paul TV, Thomas N, Seshadri MS, Oommen R, Jose A, Mahendri NV (2008) Prevalence of osteoporosis in ambulatory postmenopausal women from a semiurban region in southern India: relationship to calcium nutrition and vitamin D status. Endocr Pract 14(6):665–671CrossRef
33.
go back to reference Harinarayan CV, Ramalakshmi T, Prasad UV, Sudhakar D, Srinivasarao PVLN, Sarma KVS et al (2007) High prevalence of low dietary calcium, high phytate consumption, and vitamin D deficiency in healthy south Indians. Am J Clin Nutr 85(4):1062–1067CrossRef Harinarayan CV, Ramalakshmi T, Prasad UV, Sudhakar D, Srinivasarao PVLN, Sarma KVS et al (2007) High prevalence of low dietary calcium, high phytate consumption, and vitamin D deficiency in healthy south Indians. Am J Clin Nutr 85(4):1062–1067CrossRef
34.
go back to reference Peng S, Plank LD, McCall JL, Gillanders LK, McIlroy K, Gane EJ (2007) Body composition, muscle function, and energy expenditure in patients with liver cirrhosis: a comprehensive study. Am J Clin Nutr 85(5):1257–1266CrossRef Peng S, Plank LD, McCall JL, Gillanders LK, McIlroy K, Gane EJ (2007) Body composition, muscle function, and energy expenditure in patients with liver cirrhosis: a comprehensive study. Am J Clin Nutr 85(5):1257–1266CrossRef
35.
go back to reference Rizzoli R, Bischoff-Ferrari H, Dawson-Hughes B, Weaver C (2014) Nutrition and bone health in women after the menopause. Womens Health Lond Engl 10(6):599–608CrossRef Rizzoli R, Bischoff-Ferrari H, Dawson-Hughes B, Weaver C (2014) Nutrition and bone health in women after the menopause. Womens Health Lond Engl 10(6):599–608CrossRef
Metadata
Title
Renal Tubular Function, Bone Health and Body Composition in Wilson’s Disease: A Cross-Sectional Study from India
Authors
Nitin Kapoor
Kripa Elizabeth Cherian
Kattiparambil G. Sajith
Maya Thomas
Chundamannil E. Eapen
Nihal Thomas
Thomas V. Paul
Publication date
01-11-2019
Publisher
Springer US
Published in
Calcified Tissue International / Issue 5/2019
Print ISSN: 0171-967X
Electronic ISSN: 1432-0827
DOI
https://doi.org/10.1007/s00223-019-00588-z

Other articles of this Issue 5/2019

Calcified Tissue International 5/2019 Go to the issue
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.