Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report

Ying Wang; Qingnan He; Xiqiang Dang; Xiaochuan Wu; Xiaoyan Li

doi:10.3389/fped.2023.1107280

Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report

Front Pediatr. 2023 Mar 31:11:1107280. doi: 10.3389/fped.2023.1107280. eCollection 2023.

Authors

Ying Wang^{1

2}, Qingnan He³, Xiqiang Dang^{1

2}, Xiaochuan Wu^{1

2}, Xiaoyan Li^{1

2}

Affiliations

¹ Department of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, China.
² Department of Pediatrics Nephrology, Children's Medical Center, The Second Xiangya Hospital, Central South University, Changsha, China.
³ Department of Pediatrics, The Third Xiangya Hospital, Central South University, Changsha, China.

Abstract

Background: Alport syndrome (AS) and Wilson's disease (WD) are genetic diseases that could lead to kidney damage. Herein, we report the clinical features and gene variants in a patient with WD and X-linked AS.

Case presentation: The proband was a 12-year-old boy diagnosed with AS coexisting with WD at the age of 11 years. The patient underwent a medical check-up when he was 4 years and 8 months. Laboratory tests revealed elevated liver enzymes, decreased serum ceruloplasmin, increased 24-h urinary copper excretion, and one variant in the ATP7B gene. Then, the patient was diagnosed with WD. After 2 months of treatment with D-penicillamine and zinc salt, his liver function had recovered to normal levels, but he presented with microscopic hematuria. The hematuria did not resolve after switching to dimercaptosuccinic acid from D-penicillamine. In addition, he presented with proteinuria 3 years later. A renal biopsy was performed more than 6 years after the patient was diagnosed with WD, and electron microscopy showed that the basement membrane thickness was uneven, layered, and focal torn. Copper staining was negative. A genetic analysis identified a hemizygous variant (c.1718G > A, p. Gly573Asp) in COL4A5 and a homozygous variant (c.2975C > T, p. Pro992leu) in ATP7B. The patient's urine protein-creatinine ratio was less than 1.0 mg/mg after a 1 year of follow-up, after enalapril was administered for treating AS.

Conclusion: This case highlights a lack of improvement in renal function after conventional treatment provides a possible indication for performing renal biopsy or genetic testing to determine the etiology in order to facilitate subsequent clinical management. Clinicians should prevent the occurrence of diagnostic inaccuracies caused by diagnostic anchoring because an accurate diagnosis is essential for achieving precise treatment and improved prognosis.

Keywords: ATP7B; Alport syndrome; COL4A5; Wilson's disease; hematuria; proteinuria.

Publication types

Case Reports