scholarly journals Immunoglobulin A Nephropathy as the First Clinical Presentation of Wilson Disease: A Case Report and Literature Review

2021 ◽  
Author(s):  
Yong-Zhe Zhang ◽  
Geng Jian ◽  
Ping He ◽  
Rui Yu ◽  
Mi Tian ◽  
...  
Keyword(s):  
Renal Function ◽  
Iga Nephropathy ◽  
Wilson Disease ◽  
Genetic Disorder ◽  
Immunoglobulin A ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Kidney Injury ◽  
Copper Metabolism ◽  
Normal Liver

Abstract Background: Wilson disease (WD) is a rare genetic disorder of copper metabolism. The difference in copper tissue accumulation lead to various clinical manifestations, including some atypical presentations. The complex clinical picture makes it easy to miss and misdiagnose, even delay the best chance for treatment. Case presentation: A 26-year-old male patient who had nephritis-range proteinuria and elevated serum creatinine. The renal pathology indicated Immunoglobulin A (IgA) nephropathy and tubular injury which was inconsistent with glomerular lesions. Cirrhosis was also detected by imaging examination. Considering both kidney injury and liver damage, WD was suspected. According to further detected results of abnormal copper metabolism, corneal Kayser-Fleischer rings(K-F rings), and genetic disorder of ATP7B gene, he was finally diagnosed as a case of WD.The patient was given oral penicillamine and zinc sulfate daily and he was also prescribed losartan to control proteinuria on the premise of monitoring renal function and blood pressure. During the 2 years follow-up, the patient’s 24h uric cooper dropped to normal. The sign of tremor hands disappeared. The Urine protein and renal function keep stable. The patient had normal liver function and maintained good quality of daily life. Conclusions: In some cases, IgA nephropathy patients with suspicious and unexplained neurological and liver symptoms cannot be ignored. They may eventually be diagnosed with WD.

scholarly journals Immunoglobulin a nephropathy as the first clinical presentation of Wilson disease: a case report and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yong-Zhe Zhang ◽  
Geng Jian ◽  
Ping He ◽  
Rui Yu ◽  
Mi Tian ◽  
...  
Keyword(s):  
Iga Nephropathy ◽  
Wilson Disease ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Immunoglobulin A ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Kidney Injury ◽  
Copper Metabolism ◽  
Atypical Presentations

Abstract Background Wilson disease (WD) is a rare genetic disorder of copper metabolism. Differences in copper tissue accumulation lead to various clinical manifestations, including some atypical presentations. The complex clinical features of WD make diagnosis challenging, delaying the best chance for treatment. Case presentation We report a case of a 26-year-old man with nephritis-range proteinuria and elevated serum creatinine. The renal pathology indicated immunoglobulin A (IgA) nephropathy and tubular injury, which was inconsistent with glomerular lesions. Cirrhosis was also detected by imaging examination. Considering both kidney injury and liver damage, WD was suspected. Based on results showing abnormal copper metabolism, corneal Kayser–Fleischer rings, and genetic disorders in the ATP7B gene, the patient was finally diagnosed with WD. After treatment with oral penicillamine, zinc sulfate and losartan, the patient showed alleviation of both WD and nephropathy after 3 years of follow-up. He maintained a good quality of daily life. Conclusion This case highlights that unexplained neurological and liver symptoms in patients with IgA nephropathy can be clues for WD.

scholarly journals Wilson Disease-Induced Acute Liver Failure (NWI = 13) Salvaged without Liver Transplant by Plasmapheresis

2021 ◽  
Vol 11 (01) ◽  
pp. e145-e147
Author(s):  
Nida Mirza ◽  
Ravi Bharadwaj ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Liver Transplantation ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Wilson Disease ◽  
Prognostic Score ◽  
Prognostic Index ◽  
Kidney Injury ◽  
Copper Metabolism ◽  
Life Saving ◽  
The Brain

AbstractWilson disease (WD) is a disorder of copper metabolism resulting in accumulation of copper in vital organs of the human body, predominantly in the liver and the brain. Acute liver failure in WD has a bad prognosis, especially with a score ≥11 in the revised WD prognostic index; emergency liver transplantation is considered the only life-saving option in this scenario. Here, we reported a girl patient with WD-induced liver failure and poor prognostic score who was rescued by plasmapheresis. She also manifested severe Coombs negative hemolytic anemia and acute kidney injury. This case report highlights the utility of an adjunctive modality besides liver transplantation for the management of fulminant liver failure caused by WD.

scholarly journals ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

2018 ◽  
Author(s):  
Daniel F. Wallace ◽  
James S. Dooley
Keyword(s):  
Wilson Disease ◽  
Genomic Sequence ◽  
Genetic Disorder ◽  
Copper Metabolism ◽  
Genetic Studies ◽  
Population Prevalence ◽  
Atpase Gene ◽  
Prevalence Estimates ◽  
The Uk ◽  
P Type

AbstractWilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase gene ATP7B. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. However, some genetic studies have reported much higher prevalence rates. The aim of this study was to estimate the population prevalence of WD and the pathogenicity/penetrance of WD variants by determining the frequency of ATP7B variants in a genomic sequence database. A catalogue of WD-associated ATP7B variants was constructed and then frequency information for these was extracted from the gnomAD dataset. Pathogenicity of variants was assessed by (a) comparing gnomAD allele frequencies against the number of reports for variants in the WD literature and (b) using variant effect prediction algorithms. 231 WD-associated ATP7B variants were identified in the gnomAD dataset, giving an initial estimated population prevalence of around 1 in 2400. After exclusion of WD-associated ATP7B variants with predicted low penetrance, the revised estimate showed a prevalence of around 1 in 20,000, with higher rates in the Asian and Ashkenazi Jewish populations. Reanalysis of other recent genetic studies using our penetrance criteria also predicted lower population prevalences for WD in the UK and France than had been reported. Our results suggest that differences in variant penetrance can explain the discrepancy between reported epidemiological and genetic prevalences of WD. They also highlight the challenge in defining penetrance when assigning causality to some ATP7B variants.

scholarly journals Fish oil therapy for IgA nephropathy: efficacy and interstudy variability.

1997 ◽  
Vol 8 (11) ◽  
pp. 1739-1744 ◽  
Author(s):  
J J Dillon
Keyword(s):  
Renal Function ◽  
Fish Oil ◽  
Iga Nephropathy ◽  
Medical Literature ◽  
Controlled Trial ◽  
Meta Analysis ◽  
Immunoglobulin A ◽  
Sample Size Calculation ◽  
Positive Effects ◽  
Negative Results

Published reports examining the efficacy of fish oil for preserving renal function in immunoglobulin A (IgA) nephropathy have yielded conflicting results. This investigation was a meta-analysis conducted to determine whether the medical literature supports this therapy. In addition, the sources of variability among published findings were examined. Studies were combined using a random effects model. Five controlled studies were identified, two with positive results and three with negative results. Forty-four percent of the between-study variance could be attributed to differences in follow-up times and, less significantly, the number of renal function measurements; a weighting procedure was developed, eliminating this variance from the combined result. When all studies were combined, the mean effect, +0.25 +/- 0.23 SD (positive effects indicate that treatment was superior to control), was not statistically significant; however, the probability of at least a minor beneficial effect was 75%. Mixed-effects regression suggested that this therapy may be more effective among individuals with more proteinuria. The medical literature, therefore, does not prove the efficacy of fish oil therapy in IgA nephropathy, but suggests that an additional placebo-controlled trial is warranted. A sample-size calculation indicated that such a trial should be larger than those to date or should attempt to increase the treatment effect, perhaps by treating for more than 2 yr or enrolling more severely proteinuric individuals.

scholarly journals IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report

2019 ◽  
Vol 48 (3) ◽  
pp. 030006051989129
Author(s):  
Wen Hao ◽  
Lina Ao ◽  
Chenli Zhang ◽  
Lei Zhu ◽  
Deqiong Xie
Keyword(s):  
Fabry Disease ◽  
Renal Biopsy ◽  
Iga Nephropathy ◽  
Alport Syndrome ◽  
Immunoglobulin A ◽  
Clinical Manifestations ◽  
Hereditary Diseases ◽  
Zebra Bodies ◽  
Gene Test ◽  
Laboratory Examinations

Immunoglobulin A (IgA) nephropathy is the most common glomerular disease, and it often manifests as persistent microscopic hematuria or gross hematuria. Fabry disease and Alport syndrome are hereditary diseases caused by mutation of genes, and these diseases are rare in China. At present, patients can be diagnosed with IgA nephropathy by clinical manifestations and laboratory examinations, but there is still controversy about the simultaneous diagnosis of Alport syndrome and Fabry disease in patients with IgA nephropathy. The present case was a 17-year-old girl with hematuria and proteinuria who underwent a renal biopsy. Light microscopy and immunofluorescence showed that IgA was deposited in the mesangium. Under electron microscopy, zebra bodies with a lamellated structure were detected. A gene test showed a COL4A3 gene mutation. The patient was administered prednisone 40 mg once a day and dispersible tablets of mycophenolate mofetil 0.75 g two times a day. The patient’s condition showed a trend of remission. The findings in our case emphasize the importance of renal biopsy and gene detection in hereditary kidney disease, especially for Fabry disease and its rare coexistence with Alport syndrome.

scholarly journals Elevated Serum Ferritin Levels Are Predictive of Renal Function Recovery among Patients with Acute Kidney Injury

2019 ◽  
Vol 248 (2) ◽  
pp. 63-71 ◽  
Author(s):  
Zorica M. Dimitrijevic ◽  
Sonja S. Salinger-Martinovic ◽  
Radmilo J. Jankovic ◽  
Branka P. Mitic
Keyword(s):  
Acute Kidney Injury ◽  
Renal Function ◽  
Serum Ferritin ◽  
Elevated Serum ◽  
Kidney Injury ◽  
Renal Function Recovery ◽  
Function Recovery

scholarly journals Wilson disease and psychiatric symptoms: A brief case report

2019 ◽  
Vol 32 (3) ◽  
pp. e100066
Author(s):  
Margarita Guerrero-Jiménez ◽  
Carmen Maura Carrillo de Albornoz Calahorro ◽  
Luis Gutierrez Rojas
Keyword(s):  
Wilson Disease ◽  
Psychiatric Symptoms ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Copper Metabolism ◽  
Short Review ◽  
Neurological Damage ◽  
Delay In Diagnosis ◽  
Causal Treatment ◽  
Delay Of Diagnosis

Wilson disease (WD) is an uncommon recessive genetic disorder affecting copper metabolism. Cardiac, neurological, hepatic and renal manifestations are well defined, nevertheless approximately 30% of patients debut with neuropsychiatric symptoms. These psychiatric alterations resulting from the accumulation of this heavy metal in the basal ganglia are some how less specific. We present a short review of psychiatric symptoms of WD and describe a case of a 37-year-old woman diagnosed with WD who presented neuropsychiatric symptoms and had a consequent delay in diagnosis and causal treatment. Patients who develop WD starting with a predominance of neuropsychiatric symptoms tend to manifest hepatic symptoms later, therefore have a longer delay of diagnosis and a poorer outcome than patients with hepatic symptoms. An early diagnosis of WD can avoid irreversible neurological damage.

Kidney injury molecule-1 expression in IgA nephropathy and its correlation with hypoxia and tubulointerstitial inflammation

2014 ◽  
Vol 306 (8) ◽  
pp. F885-F895 ◽  
Author(s):  
Qiongzhen Lin ◽  
Ying Chen ◽  
Jicheng Lv ◽  
Hong Zhang ◽  
Jiawei Tang ◽  
...  
Keyword(s):  
Renal Function ◽  
Iga Nephropathy ◽  
Renal Injury ◽  
Kidney Injury ◽  
Inflammatory Cells ◽  
Capillary Density ◽  
Clinicopathological Parameters ◽  
Tubulointerstitial Injury ◽  
Tubulointerstitial Inflammation

Tubulointerstitial injury plays an important role in the development and progression of chronic kidney disease (CKD). Kidney injury molecule (KIM)-1 is induced in damaged proximal tubules in both acute renal injury and CKD. However, the dynamics of KIM-1 in CKD and effects of KIM-1 expression on disease progression are unknown. Here, we aimed to determine the associations between tubular KIM-1 expression levels, renal function, and inflammation in CKD. The relationships between levels of KIM-1 and clinicopathological parameters were analyzed in patients with progressive and nonprogressive IgA nephropathy. KIM-1 expression was increased in patients with IgA nephropathy, and its expression was significantly correlated with the decrease of renal function. KIM-1 was particularly evident at the site with reduced capillary density, and KIM-1-positive tubules were surrounded by infiltrates of inflammatory cells. Using in vitro cell models, we showed that cellular stressors, including hypoxia, induced KIM-1 expression. KIM-1-expressing cells produced more chemokines/cytokines when cultured under hypoxic conditions. Furthermore, we showed that tubular cells with KIM-1 expression can regulate the immune response of inflammatory cells through the secretion of chemotactic factors. These data suggest that KIM-1-expressing epithelial cells may play a role in the pathogenesis of tubulointerstitial inflammation during chronic renal injury through the secretion of chemokines/cytokines.

Immunoglobulin A nephropathy and IgA vasculitis (HSP)

2020 ◽  
pp. 4909-4917
Author(s):  
Jonathan Barratt ◽  
John Feehally
Keyword(s):  
Acute Kidney Injury ◽  
Renal Failure ◽  
Iga Nephropathy ◽  
Systemic Vasculitis ◽  
Treatment Options ◽  
Immunoglobulin A ◽  
Kidney Injury ◽  
Oral Prednisolone ◽  
Immunoglobulin A Nephropathy ◽  
Renal Vasculitis

Immunoglobulin A nephropathy (IgAN) is the commonest pattern of glomerulonephritis identified in areas of the world where renal biopsy is widely practised. It is defined pathologically by IgA deposition in the glomerular mesangium accompanied by a mesangial proliferative glomerulonephritis which may vary greatly in severity. Aetiology is uncertain, but abnormalities of IgA1 hinge-region O-glycosylation are consistently found. Clinical features—IgAN can present with (1) visible haematuria, typically in children and young adults, developing within a day or two of upper respiratory tract infection (‘synpharyngitic’); (2) asymptomatic nonvisible haematuria/proteinuria; (3) nephrotic syndrome (<5% of cases); (4) acute kidney injury (uncommon); and (5) chronic renal failure with up to 25% of patients reaching endstage renal failure within 20 years of diagnosis. Henoch–Schönlein purpura (HSP) is a small vessel systemic vasculitis characterized by small blood vessel deposition of IgA that predominantly affects the skin, joints, gut, and kidney, with nephritis that may be histologically indistinguishable from IgA nephropathy. Management—there is no treatment known to modify mesangial deposition of IgA. Treatment options are mostly directed at controlling blood pressure and limiting proteinuria through blockade of the renin–angiotensin–aldosterone axis. In the rare patient presenting with acute kidney injury in whom biopsy shows crescentic IgA nephropathy, a regimen such as those used for renal vasculitis and other forms of crescentic glomerulonephritis should be considered, for example, oral prednisolone in combination with cyclophosphamide.

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