Nephrotic Syndrome and Idiopathic Membranous Nephropathy Associated with Autosomal-Dominant Polycystic Kidney Disease

We report the case of a 38-year-old male with autosomal-dominant polycystic kidney disease (ADPKD) and concomitant nephrotic syndrome secondary to membranous nephropathy (MN). A 3-month course of prednisone 60 mg daily and losartan 100 mg daily resulted in resistance. Treatment with chlorambucil 0.2 mg/kg daily, low-dose prednisone, plus an angiotensin-converting enzyme inhibitor (ACEI) and an angiotensin II receptor blocker (ARB) for 6 weeks resulted in partial remission of his nephrotic syndrome for a duration of 10 months. After relapse of the nephrotic syndrome, a 13-month course of mycophenolate mofetil (MFM) 2 g daily and low-dose prednisone produced complete remission for 44 months. After a new relapse, a second 24-month course of MFM and low-dose prednisone produced partial to complete remission of proteinuria with preservation of renal function. Thirty-six months after MFM withdrawal, complete remission of nephrotic-range proteinuria was maintained and renal function was preserved. This case supports the idea that renal biopsy is needed for ADPKD patients with nephrotic-range proteinuria in order to exclude coexisting glomerular disease and for appropriate treatment/prevention of renal function deterioration. To the best of our knowledge, this is the first reported case of nephrotic syndrome due to MN in a patient with ADPKD treated with MFM, with remission of proteinuria and preservation of renal function after more than 10 years. Findings in this patient also suggest that MFM might reduce cystic cell proliferation and fibrosis, preventing progressive renal scarring with preservation of renal function.

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Nephrotic syndrome in autosomal dominant polycystic kidney disease.

Journal of the American Society of Nephrology ◽

10.1681/asn.v651354 ◽

1995 ◽

Vol 6 (5) ◽

pp. 1354-1359

Author(s):

G Contreras ◽

A Mercado ◽

V Pardo ◽

C A Vaamonde

Keyword(s):

Nephrotic Syndrome ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Minimal Change Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Protein Excretion ◽

Histopathologic Evaluation ◽

Autosomal Dominant Polycystic Kidney ◽

Nephrotic Range Proteinuria

Urinary protein excretion is generally less than 1 g/24 h in autosomal dominant polycystic kidney disease (ADPKD), and the association of the nephrotic syndrome with this condition is considered rare. A patient with ADPKD associated with nephrotic-range proteinuria is described. She exhibited a relatively rapid impairment of her renal function. An open renal biopsy revealed focal segmental glomerulosclerosis (FGS) with features consistent with secondary FGS. Twenty-one patients with ADPKD and nephrotic syndrome were retrieved from the literature. Fourteen of them (including this case) had a histopathologic evaluation, and FGS was the dominant diagnoses (five patients). Next in frequency were minimal-change disease and membranous nephropathy, with two patients each. Five other patients had a variety of diagnoses. Thus, it is difficult to ascertain if these associations are coincidental or represent a specific pathogenetic relationship. The evaluation of the data also suggests that the presence of proteinuria and nephrotic syndrome accelerates the course of ADPKD toward ESRD.

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The Effect of Smoking on Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease Patients with Preserved Renal Function

Renal Failure ◽

10.1080/0886022x.2021.1949348 ◽

2021 ◽

Vol 43 (1) ◽

pp. 1124-1129

Author(s):

Cuma Bulent Gul ◽

Abdulmecit Yildiz ◽

Saim Sag ◽

Aysegul Oruc ◽

Alparslan Ersoy ◽

...

Keyword(s):

Renal Function ◽

Endothelial Dysfunction ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney

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A Case of Severe Aortic Valve Regurgitation Caused by an Ascending Aortic Aneurysm in a Young Patient With Autosomal Dominant Polycystic Kidney Disease and Normal Renal Function

Korean Circulation Journal ◽

10.4070/kcj.2012.42.2.136 ◽

2012 ◽

Vol 42 (2) ◽

pp. 136 ◽

Cited By ~ 7

Author(s):

Jeongeun Kim ◽

Sang Min Kim ◽

Sang Yeub Lee ◽

Ho-Chang Lee ◽

Jang-Whan Bae ◽

...

Keyword(s):

Renal Function ◽

Kidney Disease ◽

Aortic Valve ◽

Aortic Aneurysm ◽

Autosomal Dominant ◽

Valve Regurgitation ◽

Aortic Valve Regurgitation ◽

Polycystic Kidney ◽

Ascending Aortic Aneurysm ◽

Autosomal Dominant Polycystic Kidney

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PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis

BMC Nephrology ◽

10.1186/s12882-019-1524-6 ◽

2019 ◽

Vol 20 (1) ◽

Author(s):

Yasuhiro Oda ◽

Naoki Sawa ◽

Eiko Hasegawa ◽

Hiroki Mizuno ◽

Masahiro Kawada ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Focal Segmental Glomerulosclerosis ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Segmental Glomerulosclerosis ◽

Glomerular Cysts ◽

Autosomal Dominant Polycystic Kidney

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Modelling the long-term benefits of tolvaptan therapy on renal function decline in autosomal dominant polycystic kidney disease: an exploratory analysis using the ADPKD outcomes model

BMC Nephrology ◽

10.1186/s12882-019-1290-5 ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 1

Author(s):

Hayley Bennett ◽

Phil McEwan ◽

Karina Hamilton ◽

Karl O’Reilly

Keyword(s):

Renal Function ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Exploratory Analysis ◽

Polycystic Kidney ◽

Renal Function Decline ◽

Autosomal Dominant Polycystic Kidney

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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing

Scientific Reports ◽

10.1038/s41598-019-52474-1 ◽

2019 ◽

Vol 9 (1) ◽

Author(s):

Hyunsuk Kim ◽

Hayne Cho Park ◽

Hyunjin Ryu ◽

Hyunho Kim ◽

Hyun-Seob Lee ◽

...

Keyword(s):

Renal Function ◽

Kidney Disease ◽

Exome Sequencing ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Kidney Volume ◽

Polycystic Kidney ◽

Genetic Characteristics ◽

Targeted Exome Sequencing ◽

Autosomal Dominant Polycystic Kidney

AbstractAutosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of end-stage renal disease (ESRD). Genetic information is of the utmost importance in understanding pathogenesis of ADPKD. Therefore, this study aimed to demonstrate the genetic characteristics of ADPKD and their effects on renal function in 749 Korean ADPKD subjects from 524 unrelated families. Genetic studies of PKD1/2 were performed using targeted exome sequencing combined with Sanger sequencing in exon 1 of the PKD1 gene and a multiple ligation probe assay. The mutation detection rate was 80.7% (423/524 families, 331 mutations) and 70.7% was novel. PKD1 protein-truncating (PKD1-PT) genotype was associated with younger age at diagnosis, larger kidney volume, lower renal function compared to PKD1 non-truncating and PKD2 genotypes. The PKD1 genotype showed earlier onset of ESRD compared to PKD2 genotype (64.9 vs. 72.9 years old, P < 0.001). In frailty model controlled for age, gender, and familial clustering effect, PKD2 genotype had 0.2 times lower risk for reaching ESRD than PKD1-PT genotype (p = 0.037). In conclusion, our results suggest that genotyping can contribute to selecting rapid progressors for new emerging therapeutic interventions among Koreans.

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Angiotensin-converting enzyme gene polymorphism in autosomal dominant polycystic kidney disease

National Journal of Clinical Anatomy ◽

10.1055/s-0039-3401746 ◽

2014 ◽

Vol 03 (02) ◽

pp. 057-063 ◽

Cited By ~ 1

Author(s):

Sanjeev Nair ◽

Praveen Kumar Kolla ◽

Madhav Desai ◽

Pathapati Rama Mohan ◽

Ramalingam K. ◽

...

Keyword(s):

Renal Function ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Genotype Distribution ◽

Polycystic Kidney ◽

Ace Genotype ◽

Autosomal Dominant Polycystic Kidney ◽

Rate Of Decline ◽

The One

Abstract Background and aim : Autosomal dominant polycystic kidney disease shows considerable variability in clinical features, including differences in severity of hypertension, rate of decline of renal function and variability in rate of cystogenesis, which are not fully explained by the genetic heterogeneity of this disease. Many different modifier variables have been proposed to explain this variability. This study aims to look at the role played by polymorphism of the ACE gene as a possible modifier in the clinical course and rapidity of progression. Material and Methods : Thirty seven patients diagnosed as ADPKD were recruited to the study. Clinical data were provided by questionnaires. Blood was collected for the determination of the ACE Insertion/Deletion (I/D) polymorphism genotype. The ACE genotype was also determined in a general control population (n = 40). The data was analyzed using the SPSS software. ACE genotype polymorphism frequencies were compared across groups using the one-way ANOVA tests. λ2 cross tabulation statistics was used to test for difference between frequency data. Results: The ACE genotype distribution showed no differences between the study (II 29.7%, ID 43.2%, DD 27.1%) and the control (II 35%, ID 45%, DD 20%) populations. Although patients on hemodialysis had a significantly higher Blood Pressure levels (p = 0.004) when compared to non-dialysis patients, no significant differences were demonstrated between genotypes of the study population. No difference was also demonstrated between the genotypes for rate of decline in renal function. Conclusion : No relationship between the ACE I/D polymorphism in ADPKD patients and severity of hypertension or progression towards ESRD was demonstrated.

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