Individual Renal Function in Polycystic Kidney Disease

Abstract Background and Aims In polycystic kidney disease (PKD) it is frequently found a reduction in urinary citrate that is related with degree of renal impairment but it is unknown if this alteration is specific or if it is also present in other nephropathies. Recently it has been suggested that urinary citrate could be a marker of covert metabolic acidosis and reflects acid retention in chronic kidney disease (CKD). Our aim was to compare urinary citrate in PKD with other renal diseases and to show its relation with serum bicarbonate and excretion of uric acid and calcium. Method We determined citrate, calcium and uric acid in 24-hour urine in patients with PKD and with other nephropathies with varied degree of renal impairment followed in a outpatient clinic of nephrology. Results We included 291 patients, 119 with glomerular diseases, 116 with PKD, 21 with other nephropathies, and 35 patients with normal renal function. Urinary citrate was higher in women (Females 309±251 mg/gCr vs. males 181±145 mg/gCr, p<0.001) and in patients with normal renal function (normal 380±210 mg/gCr; PKD 203±166 mg/gCr; glomerular 279±282 mg/gCr; p<0,001). PKD patients showed similar values of urinary citrate to patients with glomerular diseases and with other nephropathies. We observed a progressive reduction in urinary citrate parallel to degree of renal impairment, in a comparable way among patients with PKD and glomerular diseases. We did not observe a relationship between urinary citrate and serum bicarbonate levels. Calcium and uric acid elimination in ADPKD patients was similar to other nephropathies and lower to patients with normal renal function. However, serum uric acid was significantly higher in glomerular patients than other nephropathies after adjust with glomerular filtration rate and sex. Conclusion Hypocitraturia is not specific of PKD but it is also present in all nephropathies. Urinary citrate are related to degree of renal impairment and it is not related with serum bicarbonate. We think that it could be interesting to study urinary citrate as a marker of renal function and its role as prognostic factor of renal deterioration.

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Hypertension and renal function deterioration in black Africans with autosomal polycystic kidney disease

Nigerian Journal of Cardiology ◽

10.4103/0189-7969.118575 ◽

2013 ◽

Vol 10 (1) ◽

pp. 18

Author(s):

SidyM Seck ◽

G Serigne ◽

MouhamadouM Cisse ◽

Mohamed Dahaba ◽

ElhadjF Ka

Keyword(s):

Renal Function ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Polycystic Kidney ◽

Black Africans ◽

Renal Function Deterioration

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HYPERTENSION IN POLYCYSTIC KIDNEY DISEASE: RELATIONSHIP BETWEEN RENAL FUNCTION AND RENAL VOLUME MEASURED BY MAGNETIC RESONANCE IMAGING

Journal of Hypertension ◽

10.1097/00004872-201106001-00562 ◽

2011 ◽

Vol 29 ◽

pp. e207

Author(s):

N. Oliva ◽

M. J. Torres ◽

R. J. Esteban ◽

M. A. Esteban ◽

R. Fernandez-Castillo

Keyword(s):

Magnetic Resonance Imaging ◽

Renal Function ◽

Magnetic Resonance ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Renal Volume ◽

Resonance Imaging ◽

Polycystic Kidney

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Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History

American Journal of Nephrology ◽

10.1159/000497444 ◽

2019 ◽

Vol 49 (3) ◽

pp. 233-240

Author(s):

Akinari Sekine ◽

Takuya Fujimaru ◽

Junichi Hoshino ◽

Tatsuya Suwabe ◽

Masahiko Oguro ◽

...

Keyword(s):

Renal Function ◽

Family History ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Clinical Course ◽

The Other ◽

Renal Outcome ◽

Polycystic Kidney ◽

Annual Decline ◽

Pkd2 Mutation

Background: Genetic characteristics of polycystic kidney disease (PKD) patients without apparent family history were reported to be different from those with a positive family history. However, the clinical course of PKD patients with no apparent family history is not well documented in the literature. Methods: We evaluated the relationship between genotype and the clinical course of 62 PKD patients with no apparent family history. Results: The annual decline of renal function was faster in the patients with PKD1/PKD2 mutation (PKD1 truncating [–3.08; 95% CI –5.30 to –0.87, p = 0.007], PKD1 nontruncating [–2.10; –3.82 to –0.38, p = 0.02], and PKD2 [–2.31; –4.40 to –0.23, p = 0.03]) than in the other patients without PKD1/PKD2 mutation. Similar results were obtained after adjustment for gender, age, estimated glomerular filtration rate (eGFR), height-adjusted total kidney volume (TKV), and mean arterial pressure (MAP). There was no significant difference in the annual decline of renal function among the different PKD1/PKD2 groups, but Kaplan-Meier analysis showed that progression to eGFR < 15 mL/min/1.73 m2 was significantly faster in PKD1 truncating group (p = 0.05). The annual rate of TKV increase was larger in the patients with PKD1/PKD2 mutation (PKD1 truncating [4.63; 95% CI 0.62–8.64, p = 0.03], PKD1 nontruncating [3.79; 0.55–7.03, p = 0.02], and PKD2 [2.11; –1.90 to 6.12, p = 0.29]) than in the other patients without PKD1/PKD2 mutation. Similar results were obtained after adjustment for gender, age, eGFR, and MAP. Conclusion: Detection of PKD1/PKD2 mutation, especially PKD1 truncating, is useful for predicting the renal outcome and rate of TKV increase in PKD patients with no apparent family history.

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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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