Clinical profile and outcome of Wilson disease in Indian children

A single centre study

Sandesh Kini, Koushik Handattu, Kalyan Chakravarthy Konda, Y. Ramesh Bhat

Research output: Contribution to journalArticle

Abstract

Background: Wilson disease is an inherited disorder of copper metabolism characterised by cirrhosis of the liver, bilateral degeneration of basal ganglia and pigmented rings in the periphery of cornea. The clinical features vary considerably. Early diagnosis and prompt treatment favours good prognosis. Objectives: To study the clinical and biochemical features of children with Wilson disease and the outcome after therapy at one year follow up. Method: The study was carried out at a tertiary care centre in South India. From January 2001 to December 2017, 35 children were diagnosed with Wilson disease based on clinical findings along with two or more of the following criteria: low serum caeruloplasmin level, increased urinary copper concentration before or after penicillamine challenge and/or the presence of Kayser-Fleischer (KF) rings. Results: Presentation was hepatic in 18 (51.4%), neurological in 8 (22.9%), mixed hepatic and neurological in 3 (8.6%) and pre-symptomatic in 6 (17.1%). All 35 children had low serum caeruloplasmin (mean 9.29±5.37mg/dl) and elevated urinary copper (mean 172.8±118.8 μg/24hr). KF rings were seen in 16 (45.7%). The Ferenci score ranged from 3 to 8 (median 4). Zinc was started in 33 (94.3%) patients and penicillamine in 29 (82.9%) Three patients died within 2 months of diagnosis, all having hepatic presentation. About 32 children were followed up for a mean duration of 5.42 years. Among children with hepatic presentation 11 (61%) improved fully following treatment. Among children with neurologic onset 4 (50%) showed significant improvement, while the rest had persistent neurological deficits. Conclusions: In this study, presentation of Wilson disease was hepatic in 51.4%, neurologic in 22.8%, mixed hepatic and neurological in 8.6% and presymptomatic in 17.2%. Hepatic presentations had more mortality while neurological presentations had persistent abnormalities.

Original languageEnglish
Pages (from-to)134-139
Number of pages6
JournalSri Lanka Journal of Child Health
Volume49
Issue number2
DOIs
Publication statusPublished - 01-01-2019
Externally publishedYes

Fingerprint

Hepatolenticular Degeneration
Liver
Copper
Ceruloplasmin
Penicillamine
Nervous System
Basal Ganglia
Serum
Tertiary Care Centers
Liver Cirrhosis
Cornea
Zinc
Early Diagnosis
India
Therapeutics
Mortality

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Kini, Sandesh ; Handattu, Koushik ; Konda, Kalyan Chakravarthy ; Bhat, Y. Ramesh. / Clinical profile and outcome of Wilson disease in Indian children : A single centre study. In: Sri Lanka Journal of Child Health. 2019 ; Vol. 49, No. 2. pp. 134-139.
@article{4e6b88e15f834c448c30b8c6c0557374,
title = "Clinical profile and outcome of Wilson disease in Indian children: A single centre study",
abstract = "Background: Wilson disease is an inherited disorder of copper metabolism characterised by cirrhosis of the liver, bilateral degeneration of basal ganglia and pigmented rings in the periphery of cornea. The clinical features vary considerably. Early diagnosis and prompt treatment favours good prognosis. Objectives: To study the clinical and biochemical features of children with Wilson disease and the outcome after therapy at one year follow up. Method: The study was carried out at a tertiary care centre in South India. From January 2001 to December 2017, 35 children were diagnosed with Wilson disease based on clinical findings along with two or more of the following criteria: low serum caeruloplasmin level, increased urinary copper concentration before or after penicillamine challenge and/or the presence of Kayser-Fleischer (KF) rings. Results: Presentation was hepatic in 18 (51.4{\%}), neurological in 8 (22.9{\%}), mixed hepatic and neurological in 3 (8.6{\%}) and pre-symptomatic in 6 (17.1{\%}). All 35 children had low serum caeruloplasmin (mean 9.29±5.37mg/dl) and elevated urinary copper (mean 172.8±118.8 μg/24hr). KF rings were seen in 16 (45.7{\%}). The Ferenci score ranged from 3 to 8 (median 4). Zinc was started in 33 (94.3{\%}) patients and penicillamine in 29 (82.9{\%}) Three patients died within 2 months of diagnosis, all having hepatic presentation. About 32 children were followed up for a mean duration of 5.42 years. Among children with hepatic presentation 11 (61{\%}) improved fully following treatment. Among children with neurologic onset 4 (50{\%}) showed significant improvement, while the rest had persistent neurological deficits. Conclusions: In this study, presentation of Wilson disease was hepatic in 51.4{\%}, neurologic in 22.8{\%}, mixed hepatic and neurological in 8.6{\%} and presymptomatic in 17.2{\%}. Hepatic presentations had more mortality while neurological presentations had persistent abnormalities.",
author = "Sandesh Kini and Koushik Handattu and Konda, {Kalyan Chakravarthy} and Bhat, {Y. Ramesh}",
year = "2019",
month = "1",
day = "1",
doi = "10.4038/sljch.v48i2.8706",
language = "English",
volume = "49",
pages = "134--139",
journal = "Sri Lanka Journalof Child Health",
issn = "1391-5452",
publisher = "Sri Lanka College of Paediatricians",
number = "2",

}

Clinical profile and outcome of Wilson disease in Indian children : A single centre study. / Kini, Sandesh; Handattu, Koushik; Konda, Kalyan Chakravarthy; Bhat, Y. Ramesh.

In: Sri Lanka Journal of Child Health, Vol. 49, No. 2, 01.01.2019, p. 134-139.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Clinical profile and outcome of Wilson disease in Indian children

T2 - A single centre study

AU - Kini, Sandesh

AU - Handattu, Koushik

AU - Konda, Kalyan Chakravarthy

AU - Bhat, Y. Ramesh

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Background: Wilson disease is an inherited disorder of copper metabolism characterised by cirrhosis of the liver, bilateral degeneration of basal ganglia and pigmented rings in the periphery of cornea. The clinical features vary considerably. Early diagnosis and prompt treatment favours good prognosis. Objectives: To study the clinical and biochemical features of children with Wilson disease and the outcome after therapy at one year follow up. Method: The study was carried out at a tertiary care centre in South India. From January 2001 to December 2017, 35 children were diagnosed with Wilson disease based on clinical findings along with two or more of the following criteria: low serum caeruloplasmin level, increased urinary copper concentration before or after penicillamine challenge and/or the presence of Kayser-Fleischer (KF) rings. Results: Presentation was hepatic in 18 (51.4%), neurological in 8 (22.9%), mixed hepatic and neurological in 3 (8.6%) and pre-symptomatic in 6 (17.1%). All 35 children had low serum caeruloplasmin (mean 9.29±5.37mg/dl) and elevated urinary copper (mean 172.8±118.8 μg/24hr). KF rings were seen in 16 (45.7%). The Ferenci score ranged from 3 to 8 (median 4). Zinc was started in 33 (94.3%) patients and penicillamine in 29 (82.9%) Three patients died within 2 months of diagnosis, all having hepatic presentation. About 32 children were followed up for a mean duration of 5.42 years. Among children with hepatic presentation 11 (61%) improved fully following treatment. Among children with neurologic onset 4 (50%) showed significant improvement, while the rest had persistent neurological deficits. Conclusions: In this study, presentation of Wilson disease was hepatic in 51.4%, neurologic in 22.8%, mixed hepatic and neurological in 8.6% and presymptomatic in 17.2%. Hepatic presentations had more mortality while neurological presentations had persistent abnormalities.

AB - Background: Wilson disease is an inherited disorder of copper metabolism characterised by cirrhosis of the liver, bilateral degeneration of basal ganglia and pigmented rings in the periphery of cornea. The clinical features vary considerably. Early diagnosis and prompt treatment favours good prognosis. Objectives: To study the clinical and biochemical features of children with Wilson disease and the outcome after therapy at one year follow up. Method: The study was carried out at a tertiary care centre in South India. From January 2001 to December 2017, 35 children were diagnosed with Wilson disease based on clinical findings along with two or more of the following criteria: low serum caeruloplasmin level, increased urinary copper concentration before or after penicillamine challenge and/or the presence of Kayser-Fleischer (KF) rings. Results: Presentation was hepatic in 18 (51.4%), neurological in 8 (22.9%), mixed hepatic and neurological in 3 (8.6%) and pre-symptomatic in 6 (17.1%). All 35 children had low serum caeruloplasmin (mean 9.29±5.37mg/dl) and elevated urinary copper (mean 172.8±118.8 μg/24hr). KF rings were seen in 16 (45.7%). The Ferenci score ranged from 3 to 8 (median 4). Zinc was started in 33 (94.3%) patients and penicillamine in 29 (82.9%) Three patients died within 2 months of diagnosis, all having hepatic presentation. About 32 children were followed up for a mean duration of 5.42 years. Among children with hepatic presentation 11 (61%) improved fully following treatment. Among children with neurologic onset 4 (50%) showed significant improvement, while the rest had persistent neurological deficits. Conclusions: In this study, presentation of Wilson disease was hepatic in 51.4%, neurologic in 22.8%, mixed hepatic and neurological in 8.6% and presymptomatic in 17.2%. Hepatic presentations had more mortality while neurological presentations had persistent abnormalities.

UR - http://www.scopus.com/inward/record.url?scp=85067010697&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85067010697&partnerID=8YFLogxK

U2 - 10.4038/sljch.v48i2.8706

DO - 10.4038/sljch.v48i2.8706

M3 - Article

VL - 49

SP - 134

EP - 139

JO - Sri Lanka Journalof Child Health

JF - Sri Lanka Journalof Child Health

SN - 1391-5452

IS - 2

ER -