Abstract

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary nephropathy and accounts for about 10% of causes of end-stage renal disease (ESRD) in adults. The main objective of this study was to determine the prevalence and predictive factors of renal failure in patients with ADPKD.
Patients And Methods: We conducted a retrospective, cross-sectional descriptive and analytical study from 1 January 2019 to 31 December 2024. All patients with a diagnosis of ADPKD were eligible. Data were collected using a standardized case report form. Statistical analysis used chi-square tests and logistic regression. Associated factors were identified, and statistical significance was set at p < 0.05.
Results: Fifty-two patients had ADPKD. Mean age at diagnosis was 60 years, and the sex ratio was 1.03. Renal failure was present in 86.2% of patients. ADPKD was discovered incidentally in 32% of cases, in the context of hypertension in 4%, and because of impaired renal function in 47%. Hepatic cysts were present in 39.2% of patients. Factors associated with renal failure were the presence of health insurance (aOR = 81.2; 95% CI 3.33–51,716; p = 0.003) and a haemoglobin level > 12 g/dL, which retained a marked protective effect (aOR = 0.02; 95% CI 0.00–0.23; p < 0.001).)
Conclusion: Renal failure is very frequent in patients with ADPKD.

Keywords:Autosomal dominant polycystic kidney disease; Renal failure; Togo; Odds Ratios; Glomerular Filtration Rate

Abbreviations:ADPKD: Autosomal dominant Polycystic Kidney Disease; ESRD: End-Stage Renal Disease; GFR: Glomerular Filtration Rate; OR: Odds Ratios

Introduction

Autosomal dominant polycystic kidney disease of the adult (ADPKD) is the most common hereditary nephropathy and accounts for approximately 10% of causes of ESRD in adults [1-3]. The prevalence of ADPKD is estimated at 1 per 1,000 individuals and the disease progresses to renal failure in nearly 50% of cases [1]. It is characterized by the development of renal cysts, associated with various extra-renal manifestations. The first systemic manifestation of ADPKD is hypertension, which precedes renal failure in more than 70% of cases and occurs at a median age of 50 years; hypertension is also found in 13% of affected children.

In addition to hypertension and renal failure, many complications can occur during ADPKD, including intracystic hemorrhage, infection and pain due to compression [4,5]. The prevalence of the disease is difficult to estimate because ADPKD remains asymptomatic for a long time. Depending on the studies and populations examined, prevalence is estimated between 1/400 and 1/1000 live births [4]. In Togo, only one study has previously been conducted on ADPKD [5]. It appears necessary to update data. The general objective of the present work was therefore to describe the profile of patients with ADPKD and to determine the prevalence and predictive factors of renal failure in this population.

Patients and Methods

Study design, setting and period

We conducted a cross-sectional descriptive and analytical study over a 6-year period from 1st January 2019 to 31st December 2024. The study was based on medical records of patients with polycystic kidneys followed as outpatients in the Nephrology Department of Sylvanus Olympio University Teaching Hospital in Lomé during the study period.

Study population, sampling and eligibility criteria

All patients with a diagnosis of ADPKD confirmed according to the Pei criteria and who had at least a serum creatinine were included. Patients without a renal work-up were not included.

Variable:

The dependent variable was the presence of renal failure, defined as estimated glomerular filtration rate below 60ml/ min/1.73m². Glomerular filtration rate (GFR) was estimated using the simplified Modification of Diet in Renal Disease (MDRD) formula [6].

ADPKD Was Defined on Clinical and Paraclinical Grounds:

- Clinical: family history – typically a familial disease (although 5% of cases are de novo). Taking a detailed pedigree and assessing signs of complications were particularly important.
- Paraclinical: renal imaging – visualization of renal cysts. Ultrasound is often sufficient, although CT is more sensitive. The most recent echographic criteria are the Pei criteria, based on the number of cysts (valid only in individuals at risk of ADPKD) [7,8].

Independent variables were sociodemographic, clinical, paraclinical and therapeutic. Data were collected using a standardized case report form. Statistical analysis was performed with RStudio version 2024.04.1+748. Qualitative variables were expressed as percentages, and quantitative variables as means with standard deviation when normally distributed.

Statistical Analysis

Associated factors were first explored using Pearson’s chi-square or Fisher’s exact test, as appropriate. Explanatory variables selected after checking for collinearity were entered into univariate logistic regression models. Variables were ranked according to the value of the odds ratios (OR) and their 95% confidence intervals (95% CI). A p-value < 0.05 was considered statistically significant. Authorization was obtained from the Ethical committee of University of Lomé and Sylvanus Olympio University Hospital, and patient anonymity was preserved.

Results

Sociodemographic data

Over the study period, 52 cases of ADPKD were seen in consultation. Mean age at diagnosis was 60 ± 14 years (range 18– 86), with a male predominance (sex ratio M/F 1.03). Regarding marital status, 88.7% were married, 7.54% widowed and 1.88% single. ADPKD was most frequently diagnosed in the context of impaired renal function (47% of cases), incidentally in 32%, following abdominal pain in 17% and in only 4% during the workup of hypertension.

Clinical Findings

Personal history was dominated by hypertension, present in 80.4% of patients. Bilateral lower limb oedema was observed in 13.7%, type 2 diabetes in 11.8%, haematuria in 9.8%, dysuria in 3.9%, and a concomitant haemoglobinopathy in 2%. No relevant history was found in 12.8% of patients.

Paraclinical Findings

Mean haemoglobin level was 11.35 ± 2.5 g/dL (range 6.2– 16.9). Mean serum calcium was 94 ± 13.13 mg/L (range 58–139). Renal failure was present in 86.2% of cases.

Imaging

Mean renal size was 197.9 mm on the right and 148.4 mm on the left. Hepatic cysts were identified in 39.2% of patients. No other extra-renal locations were observed in this series.

Treatment

Haemodialysis was the treatment proposed in cases of renal failure. Only 24.5% of patients received haemodialysis. No nephrectomy was performed in our study. Other variables are described in Table 1.

Table 2 shows the factors associated with renal failure in univariable analysis. The presence of health insurance, a family history of ADPKD, antihypertensive treatment and polypharmacy were associated with a higher frequency of renal failure, but without reaching statistical significance (p > 0.05). In contrast, a haemoglobin level > 12 g/dL was significantly associated with a lower probability of renal failure (OR = 0.11; 95% CI 0.02–0.42; p = 0.002). After adjustment in the multivariable model, two factors remained independently associated with renal failure: the presence of health insurance (aOR = 81.2; 95% CI 3.33–51,716; p = 0.003) and a haemoglobin level > 12 g/dL, which retained a marked protective effect (aOR = 0.02; 95% CI 0.00–0.23; p < 0.001) Table 3.

¹n (%); ²Fisher’s exact test; chi-square test of independence.1 n (%); 2 Fisher’s exact test; Pearson chi-square test.

1OR = odds ratio; CI = confidence interval; ADPKD = autosomal dominant polycystic kidney disease.

¹ % (n/N); ² OR = odds ratio; CI = confidence interval; ADPKD = autosomal dominant polycystic kidney disease.

Discussion

Limitations

As with most retrospective studies, our work was limited by missing information in the medical records. The absence of an electronic medical record system complicated retrieval of files and patient follow-up. The overall sample size and the number of subjects in certain categories were small, resulting in very wide confidence intervals and extreme ORs, despite the use of penalized regression methods. In addition, our analysis did not consider several socioeconomic determinants (income, educational level, place of residence), although these are well-recognized drivers of unequal access to kidney care in Africa [9,10].

Commentary of Results Prevalence

Renal failure was present in 86.2% of cases. This indicates that a large proportion of patients were already at the stage of established renal involvement at the time of diagnosis. In African series of ADPKD, such late presentation is common. In Senegal, Ka et al. reported renal failure at diagnosis in 64% of patients with ADPKD [11]. In Nigeria, Arogundade et al. found that just over half of patients had renal failure at first evaluation [12]. More recently, Okyere et al. in Ghana described a cohort of ADPKD patients in whom the majority already had a reduced GFR at diagnosis [13]. Our prevalence appears higher than that reported in these African cohorts but is consistent with the idea of a general delay in the diagnosis of kidney disease. Thus, the 86.2% prevalence of renal failure in our series probably reflects diagnosis at an advanced stage of disease, limited screening of at-risk individuals, and financial and geographic barriers to accessing nephrologists and specialized tests.

Factors Associated with Renal Failure and Treatment

The very strong association observed between health insurance and renal failure is unlikely to be causal. In our context, several studies have shown that management of chronic kidney disease remains costly, with limited health insurance coverage and restricted access to specialist consultation, investigations and dialysis [10,14,15]. It is therefore likely that patients with health insurance are over-represented among documented cases of renal failure, because they more easily access investigations (serum creatinine, imaging, nephrology follow-up) and are more frequently referred to nephrology, whereas a non-negligible proportion of uninsured individuals remain undiagnosed or are lost to follow-up.

Health insurance should thus be considered as a marker of access to the health-care system rather than a causal factor for renal failure. In contrast, the relationship between anemia and renal failure observed in our study is in line with African data. Several studies from Ethiopia, South Africa and regional metaanalyses have reported anemia prevalences of 50–70% among patients with chronic kidney disease, with anemia worsening as GFR declines [16–18]. Our findings are also consistent with African ADPKD cohorts that describe high frequencies of hypertension, anemia and progression to ESRD, particularly in Ghana, South Africa and other sub-Saharan series where diagnosis is often late and the burden of comorbidities substantial [19,20].

Conclusion

ADPKD is not uncommon, but is probably underdiagnosed, most likely because hypertension is not systematically investigated in depth. As a major cause of chronic kidney disease, it requires strict blood pressure control and anemia to prevent progression to renal failure.

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