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The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed....
Contexts in source publication
Context 1
... at the time of ADPKD diagnosis, serum creatinine at referral, age at the begin- ning of the dialysis program, number of patients with hepatic cysts, and other clinical data are presented in Table 1. The frequency of arterial hypertension and urinary tract infection, but not of serum creatinine at re- ferral, was higher in female than in male patients. ...
Context 2
... prevalence of urinary infection was 35.8% (33 patients), mostly affecting female patients (87.8%; Table 1) in the present study. Symptomatic lower urinary tract infection affects 50-75% of all polycystic patients at some time. ...
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Citations
... Hypertension occurs in 50-70% of patients before any significant depletion in the glomerular filtration rate, and it occurs at an earlier age in PKD patients compared to the general population (8). Hypertension is a main early finding of PKD prior to any renal dysfunction, which can accelerate end-stage kidney disease in about 60 percent of PKD patients (12,13). ...
Autosomal dominant polycystic kidney disease (PKD) is a hereditary disorder affecting multiple organs, including the heart. PKD has been associated with many cardiac abnormalities including the arrhythmogenic remodeling in clinical evaluations. In our current study, we hypothesized that Pkd2 gene mutation results in structural and functional defects in the myocardium. The structural and functional changes of Pkd2 mutant hearts were analyzed in the myocardial-specific Pkd2 knockout (KO) mouse. We further assessed a potential role of TGF-b 1 signaling in the pathology of Pkd2 -KO hearts. Hearts from age-matched 6-month-old MyH6 • Pkd2 wt / wt (control or wild-type) and MyH6 • Pkd2 flox / flox (mutant or Pkd2 -KO) mice were used to study differential heart structure and function. Cardiac histology was used to study structure, and the “isolated working heart” system was adapted to mount and perfuse mouse heart to measure different cardiac parameters. We found that macrophage1 (M1) and macrophage 2 (M2) infiltration, transforming growth factor (TGF-b 1 ) and TGF-b 1 receptor expressions were significantly higher in Pkd2 -KO, compared to wild-type hearts. The increase in the extracellular matrix in Pkd2 -KO myocardium led to cardiac hypertrophy, interstitial and conduction system fibrosis, causing cardiac dysfunction with a predisposition to arrhythmia. Left ventricular (LV) expansion or compliance and LV filling were impaired in fibrotic Pkd2 -KO hearts, resulted in diastolic dysfunction. LV systolic contractility and elastance decreased in fibrotic Pkd2 -KO hearts, resulted in systolic dysfunction. Compared to wild-type hearts, Pkd2 -KO hearts were less responsive to the pharmacological stress-test and changes in preload. In conclusion, Pkd2 -KO mice had systolic and diastolic dysfunction with arrhythmogenic hearts.
... The most common extrarenal manifestation is liver cysts, which present in >90% of patients with ADPKD over 35 years of age. Other manifestations include intracranial aneurysms, development of cysts in pancreas, seminar vesicles, and ovaries [11]. PKD1 and PKD2 mutations have different prognostic implications. ...
Background:
At least 10% of adults and most of the children who receive renal replacement therapy have inherited kidney diseases. These disorders substantially decrease their life quality and have a large effect on the health-care system. Multisystem complications, with typical challenges for rare disorders, including variable phenotypes and fragmented clinical and biological data, make genetic diagnosis of inherited kidney disorders difficult. In current clinical practice, genetic diagnosis is important for clinical management, estimating disease development, and applying personal treatment for patients.
Summary:
Inherited kidney diseases comprise hundreds of different disorders. Here, we have summarized various monogenic kidney disorders. These disorders are caused by mutations in genes coding for a wide range of proteins including receptors, channels/transporters, enzymes, transcription factors, and structural components that might also have a role in extrarenal organs (bone, eyes, brain, skin, ear, etc.). With the development of next-generation sequencing technologies, genetic testing and analysis become more accessible, promoting our understanding of the pathophysiologic mechanisms of inherited kidney diseases. However, challenges exist in interpreting the significance of genetic variants and translating them to guide clinical managements. Alport syndrome is chosen as an example to introduce the practical application of genetic testing and diagnosis on inherited kidney diseases, considering its clinical features, genetic backgrounds, and genetic testing for making a genetic diagnosis.
Key messages:
Recent advances in genomics have highlighted the complexity of Mendelian disorders, which is due to allelic heterogeneity (distinct mutations in the same gene produce distinct phenotypes), locus heterogeneity (mutations in distinct genes result in similar phenotypes), reduced penetrance, variable expressivity, modifier genes, and/or environmental factors. Implementation of precision medicine in clinical nephrology can improve the clinical diagnostic rate and treatment efficiency of kidney diseases, which requires a good understanding of genetics for nephrologists.
... UTIs, were the second highest complication (19.5 %) at diagnosis. Other studies reported much higher percentages with female predominance [15,22,23]. With about 97.6 % of our participants having CKD and 15.9 % of them already in end stage, it is typical that anemia was reported in (13.5 %) although this was rather a low perecentage. ...
Background
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the commonest of the hereditary kidney diseases and mostly ensues in utero with signs delayed until after several decades. This study assessed the demographic, diagnostic (clinical and biochemical features) and therapeutic patterns among ADPKD patients who attended the nephrology unit of Komfo Anokye Teaching Hospital (KATH) from 2007 to 2018.
Methods
This cross-sectional retrospective analysis of ADPKD patient records was conducted at the nephrology unit of KATH in October 2020. The records of 82 ADPKD was used for this study. Demographic, clinical, biochemical, ultrasonographic and therapeutic data was obtained, organized and analyzed with Statistical Package for the Social Sciences (SPSS).
Results
ADPKD was most prevalent in people within the ages of 31–40 years (25.6 %), with a male (52.4 %) preponderance. The most common clinical features presented were flank pain (30.5 %) and bipedal swelling (18.3 %). Hypertension (42.7 %), urinary tract infections (UTIs) (19.5 %), and anemia (13.4 %) were the most common complications reported. Average level of HDL-c was higher in females (1.7) than in males (1.2) (p = 0.001). Hematuria (34 %) and proteinuria (66 %) were among the biochemical derangements presented. About 81.7 % had CKD at diagnosis with the majority in stages 1 (27.0 %), 3(23.2 %) and 5 (20.3 %). Poor corticomedullary differentiation was observed in 90.2 % of participants and increased echogenicity was observed in 89.0 % of the participants. Estimated GFR (eGFR) correlated positively with echotexture (r = 0.320, p = 0.005) and negatively with CMD (r= -0.303, p = 0.008). About 95.1 % of patients were on conservative therapy including: 73.2 %, 52.4 %, 22.0 %, 13.4 %, 8.5 % on Irebesartan/Lisinopril, Nifecard XL, Hydralazine, Methyldopa and Bisoprolol respectively for hypertension; 26.8 and 3.7 % on Gliclazide and Metformin respectively for Type 2 diabetes mellitus; 25.6 %, 24.4 and 18.3 % on CaCO3, fersolate and folic acid respectively as nutrient supplements with 4.9 % of participants on renal replacement therapy (RRT).
Conclusions
ADPKD occurs in people aged ≥ 31 years with a higher male preponderance. Clinical features include flank and abdominal pain, bipedal swelling, headache, amongst others. Uremia, hematuria, proteinuria, decreased eGFR, were the common biochemical derangements reported with higher severity detected in men. The therapeutic interventions mostly involved conservative therapy to manage symptoms and other comorbid conditions and rarely renal replacement therapy (RRT).
... Частота артериальной гипертензии выше, средняя длина почек больше у детей этой категории, но полученные различия недостоверны. По СКФ, определяемой по эндогенному клиренсу и расчетной формуле Schwartz, а также по максимальному размеру кист в сравниваемых группах достоверных различий не отмечено [16]. ...
... Паренхиматозная артериальная гипертензияхарактерный клинический синдром АДПП и АРПП, определяющий тяжесть их течения в связи с поражением органов-мишеней. По нашим данным, частота развития артериальной гипертензии увеличивается с возрастом с 32,6% (у детей и подростков) до 79,4% (у взрослых пациентов) [12,16,22]. При АДПП стабильная систолодиастолическая (по результатам суточного мониторинга) артериальная гипертензия обусловливает поражение органов-мишеней уже в детском возрасте и диктует необходимость назначения 1-2 антигипертензивных препаратов [22]. ...
The article reflects the genetic variants of polycystic kidney disease, describes the modern strategy for the treatment of polycystic kidney disease in children and adults. The authors present the results of clinical trials of vasopressin V2 receptor antagonists (tolvaptan, liksivaptan), a multi-kinase inhibitor (tezevatinib), somatostatin analogues (lankreotide, octreotide), statins (pravastatin), mTOR inhibitors (everolimus, sirolimus), metformin in patients with autosomal recessive and autosomal polycystic kidney disease. The authors discuss the factors determining the prognosis and outcome of these diseases.
... Loin pain, on the other hand, was the main presenting complaint at presentation (68.3%) and is slightly higher than about 60% quoted by Bajwa et al. 16 Acute loin pain (uni-or bilateral) may arise from cystic haemorrhage, urolithiasis, mass pressure effect and urinary tract infections. In our study, 31.7% had urinary tract infection which is similar to 35.8% reported by Romao et al. 17 It was more prevalent among females in conformity with findings by previous authors. 7,[17][18][19] Majority of the subjects (73.2%) had haematocrit below 30%. ...
... In our study, 31.7% had urinary tract infection which is similar to 35.8% reported by Romao et al. 17 It was more prevalent among females in conformity with findings by previous authors. 7,[17][18][19] Majority of the subjects (73.2%) had haematocrit below 30%. This is lower than 88.2% reported among an elderly group with ADPKD. ...
... In Dakar, hypertension was found in 61.1% of their male subjects who had ADPKD even though some other studies reported higher prevalence of hypertension among women. 7,[17][18]22 Hypertension is known to occur at an earlier age in patients with ADPKD compared to the general population. 21 The peak incidence of hypertension was 31-40 years in our study which coincides with the peak age at presentation of ADPKD. ...
Introduction:
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is presumably rare in Africa. Knowledge about the disease in Nigeria is limited as demonstrated by scanty articles on the subject.
Objectives:
To determine the pattern of clinical presentation and outcome of ADPKD among ADPKD patients.
Method:
ADPKD subjects were prospectively studied between January 1996 and December 2010. Their demographics, clinical and investigation parameters were documented. Dependency on dialysis, renal transplant and death were the final outcomes.
Results:
Forty one patients (M:F=1.3:1) with mean age of 48.6±4.6 years were studied. ADPKD was diagnosed at 2.73 cases per annum. Family history of ADPKD and hypertension were present in 56.1% and 82.9% respectively. Their mean systolic and diastolic blood pressures were 166.9 ±23.6 and 104 ±21.2 respectively.Nocturia (78.0%) and loin pain (68.3%) were the most common presenting symptoms. Liver cysts (31.7%) and aortic regurgitation (22.0%) were the predominant extra-renal manifestations.Twenty three (56.1%) received haemodialysis; no renal transplantation. Death rate was 51.2%. Presence of uraemia and intra-cerebral aneurysm contributed significantly to mortality.
Conclusion:
ADPKD may not be so rare in Nigeria. Awareness campaign to change attitude of family members to screening and further studies using newer criteria for diagnosis of ADPKD should be conducted.
... Other extrarenal manifestations include intracranial aneurysms (ICA) and aortic aneurysms, arachnoid cysts, cerebral artery dolichoectasia, colonic diverticula, and cardiac abnormalities such as mitral valve prolapse, mitral regurgitation, aortic insufficiency, and tricuspid regurgitation. 2 The epidemiology of ADPKD has rarely been studied in non-Caucasian populations, and the impact on health of this chronic disease has not yet been assessed in developing countries. [3][4][5] A single study from India recently reported ADPKD to be the etiology of chronic kidney disease (CKD) in 2.6% cases. 6 As far as we know, there are no reports on the evaluation of clinical data in Indian ADPKD patients. ...
... The study showed a higher prevalence (60.6%) of this condition among males, whereas a higher prevalence of 51.4% and 63%, respectively, in female European 10 and Brazilian 4 populations has been reported. Mean age at diagnosis was higher in our patients as compared to that in studies by Romão et al 4 and Thong and Ong. 10 Even the serum creatinine at diagnosis was higher in our study as compared to that in a study by Romão et al. 4 A high prevalence of hypertension, nocturia, abdominal pain, nephrolithiasis, UTI, and renal dysfunction was found in Indian ADPKD patients. ...
... Pain is a common manifestation of ADPKD. 4,11,12 Potential etiologies include cyst hemorrhage, nephrolithiasis, cyst infection, and rarely, tumor. Discomfort, ranging from a sensation of fullness to severe pain, can also result from renal enlargement and distortion by cysts. ...
Background: Autosomal dominant polycystic kidney disease (ADPKD) is an important cause of renal failure. Sparse recent data are available on clinical presentation ADPKD from India.
Methods: We retrospectively studied the clinical presentation, imaging findings and laboratory abnormalities in 51 patients diagnosed to have ADPKD at our tertiary care teaching hospital at Tirupati, South India.
Results: Their mean age at presentation was 49.1± 13.2 years; there were 32 (63%) males. Salient renal clinical manifestations at initial presentation included abdominal pain (47%); fever (35%), shortness of breath (33%); palpable mass per abdomen (25%); burning micturition (20%); haematuria (10%); and renal/ureteric caliculi (12%). Other manifestations were headache (21%); altered sensorium (12%); intracerebral bleed (8%) and chest pain (8%). Family history of ADPKD was present in 13 (26%) patients. On imaging studies kidneys were normal sized in 39%, enlarged in 59% and small sized in one patient; co-existent liver cysts were found in 12 patients. Hypertension (n = 20, 40%); chronic kidney disease (CKD) (n = 36, 71%) were evident at initial presentation. Other associated co-morbid conditions were type 2 diabetes mellitus (n = 6); Marfan's syndrome with mitral valve prolapsed and renal cell carcinoma (one patient each).
Conclusions: In Tirupati, South India, ADPKD most commonly presented in fourth or fifth decade of life. Males were affected more frequently than females. Presence of CKD, hypertension at the time of inital diagnosis suggests that ADPKD is diagnosed late in the course of the disease. A high index of suspicion, specific diagnostic work-up including abdominal ultrasonography is required to diagnose ADPKD.
... 1 On the other hand, the etiology of brain aneurysms is a controversial topic in which genetic changes, smoking and arterial hypertension constitute predisposing factors. 1 The estimated overall prevalence of unruptured intracranial aneurysms in adults without comorbidities is about 3.2%. 3 Therefore, although they are common lesions that are often associated with collagen diseases such as Marfan syndrome and polycystic renal disease, 3 an association between an arachnoid cyst and brain aneurysm in the same patient is extremely rare. 4,5 The aim of this paper was to report a case of a patient with a diagnosis of an arachnoid cyst and a non-ruptured intracystic brain aneurysm. ...
... 1 On the other hand, the etiology of brain aneurysms is a controversial topic in which genetic changes, smoking and arterial hypertension constitute predisposing factors. 1 The estimated overall prevalence of unruptured intracranial aneurysms in adults without comorbidities is about 3.2%. 3 Therefore, although they are common lesions that are often associated with collagen diseases such as Marfan syndrome and polycystic renal disease, 3 an association between an arachnoid cyst and brain aneurysm in the same patient is extremely rare. 4,5 The aim of this paper was to report a case of a patient with a diagnosis of an arachnoid cyst and a non-ruptured intracystic brain aneurysm. ...
... 4 There is an association between collagen diseases and other forms of brain dysplasia, such as in Elhers-Danlos and Marfan syndromes and in polycystic kidney disease. 1 The current prevalence of brain aneurysms in patients with polycystic kidney disease ranges from 4 to 12%, which is higher than in the general population (1-4%). 3 In these cases, the risk of rupture risk is higher: about five times greater than in patients without this disease. 3 Romão et al. 3 evaluated 92 patients with polycystic disease and found that six of them had some form of intracranial lesion: three with aneurysms and three with arachnoid cysts. ...
Context:
Presence of an arachnoid cyst and a non-ruptured intracystic brain aneurysm is extremely rare. The aim of this paper was to describe a case of a patient with an arachnoid cyst and a non-ruptured aneurysm inside it. Clinical, surgical and radiological data were analyzed and the literature was reviewed.
Case report:
A patient complained of chronic headache. She was diagnosed as having a temporal arachnoid cyst and a non-ruptured middle cerebral artery aneurysm inside it. Surgery was performed to clip the aneurysm and fenestrate the cyst.
Conclusions:
This report raises awareness about the importance of intracranial vascular investigation in patients with arachnoid cysts and brain hemorrhage.
... In addition, these patients have been found around threefold mortality rate compared with general population [4] if lacks of appropriate treatment. Furthermore, not only multiple cystic expansions throughout the renal parenchyma but also extrarenal involvement with cystic and noncystic manifestations have been well identified [5]. Of importance is that the vascular complications have been demonstrated as the leading cause of death in patients with ADPKD [6]. ...
Fairly limited data reported the incidence and risk of cerebrovascular accident (CVA) in autosomal dominant polycystic kidney disease (ADPKD). Additionally, little is known regarding the therapeutic impact of renin-angiotensin-aldosterone system (RAAS) blockade and statin on reducing the occurrence of CVA in ADPKD. We utilized the data from Taiwan National Health Insurance Research Database (NHIRD) to perform a population-based cohort study (1997-2013). A total of 2,647 patients with ADPKD were selected from 1,000,000 general population after excluding patients with age<18, renal replacement therapy and concomitant diagnosis of CVA. Additionally, non-ADPKD subjects were assigned as comparison group by matching study cohort with age, gender, income and urbanization in 1:10 ratio (n=26,470). The results showed that ADPKD group had significantly higher frequency rate and cumulative incidence of CVA as compared with the non-ADPKD group (8.73% v.s. 3.93%, p<0.0001). Furthermore, the frequencies of both hemorrhagic and ischemic strokes were also significantly higher in the ADPKD than non-ADPKD group (all p-values <0.0001). After adjusting for age, gender and atherosclerotic risk factors with multivariate analysis, ADPKD independently carried 2.34- and 5.12-fold risk for occurrence of CVA and hemorrhagic stroke (95% CI: 2.02-2.72 and 4.01-6.54), respectively. Combination therapy [adjusted (a) HR=0.19, 95% CI: 0.11-0.31] was superior to either RAAS blockade (aHR=0.37, 95% CI, 0.28-0.5) or statin (aHR=0.44, 95% CI, 0.24-0.79) alone for reducing the CVA occurrence in the ADPKD population. In conclusion, ADPKD was associated with an increased risk of CVA occurrence. Combined RAAS blockade and statin therapy effectively reduces the risk of CVA in ADPKD.
... Hypertension is the most frequent initial presentation of ADPKD, occurring in 50% to 75% of cases and usually preceding the onset of renal failure. 2,22 Hypertension is more common in male ADPKD patients, begins early in the course of the disease, and is diagnosed around the fourth decade of life. 21 In a study in 2007, de Almeida et al 23 used 24-hour ambulatory blood pressure monitoring early in the course of ADPKD and found significantly higher systolic, diastolic, and mean 24-hour blood pressures in ADPKD patients who had normal in-office blood pressure than in normotensive controls. ...
Autosomal dominant polycystic kidney disease (ADPKD) has numerous systemic manifestations and complications. This article gives an overview of hypertension, cardiac complications, and intracranial aneurysms in ADPKD, their pathophysiology, and recent developments in their management.
... Hypertension is the most frequent initial presentation of ADPKD, occurring in 50% to 75% of cases and usually preceding the onset of renal failure. 2,22 Hypertension is more common in male ADPKD patients, begins early in the course of the disease, and is diagnosed around the fourth decade of life. 21 In a study in 2007, de Almeida et al 23 used 24-hour ambulatory blood pressure monitoring early in the course of ADPKD and found significantly higher systolic, diastolic, and mean 24-hour blood pressures in ADPKD patients who had normal in-office blood pressure than in normotensive controls. ...
Autosomal dominant polycystic kidney disease (ADPKD) has numerous systemic manifestations and complications. This article gives an overview of hypertension, cardiac complications, and intracranial aneurysms in ADPKD, their pathophysiology, and recent developments in their management.
