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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 un...
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Context 1
... the 82 patients had ultrasound examination and length pole-pole (LPP) was 15.56 ± 2.88 cm for the right and 15.47 ± 2.90 cm for the left kidney. Pole width (PW) on the right side was 8.18 ± 2.36 cm slightly less than 8.23 ± 2.00 cm on the left side (Table 5). About 74 (90.2 %) had poor corticomedullary differentiation (CMD) while only 8(9.8) had good CMD. ...Context 2
... eGFR negatively correlated with urine protein (Spearman rank correlation coefficient (r)= -0.329, p = 0.020) and urine blood (r= -0.453, p = 0.001). Glomerular filtration rate negatively correlated with corticomedullary differentiation (CMD) (r= -0.303, p = 0.008) and positively correlated with echotexture (r = 0.320, p = 0.005) ( Table 5). ...Context 3
... positive correlation between eGFR and echogenicity we found is expected, since increased kidney echogenicity usually signifies an underlying kidney disease. Similar to the findings of Cristea et al., [29], kidney size (defined by the LPP) was significantly high (averagely 15.56 cm for right kidney and 15.47 cm for left - Table 5), most likely due to multiple cyst formation and enlargement in the kidney. ...Citations
... Although the identification of the causative genetic mutation(s) can help with the better characterization of the cysts, genotype-phenotype correlation is often heterogeneous. Genetic testing is still far from being a part of a regular clinical workup, both in developed and developing countries [4,[61][62][63][64][65]. Therefore, describing the clinical and laboratory findings and outcomes in patients with CyKD can still provide important and valuable information for clinical practice [66]. ...
Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to predict the long-term outcomes. Aim: A retrospective study aimed to provide a concise overview of this condition and analyze real-life data from a single-center pediatric CyKD cohort followed during a 12-year period. Methods and Materials: Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes. Results: During the study period, 112 patients received a diagnosis of pediatric CyKD. Male patients were more involved than female (1:0.93). Fifty-six patients had a multicystic dysplastic kidney ; twenty-one of them had an autosomal dominant disorder; fifteen had an isolated renal cyst; ten had been diagnosed with autosomal recessive polycystic kidney disease; three had the tuberous sclerosis complex; two patients each had Bardet-Biedl, Joubert syndrome, and nephronophthisis; and one had been diagnosed with the trisomy 13 condition. Genetic testing was performed in 17.9% of the patients, revealing disease-causing mutations in three-quarters (75.0%) of the tested patients. The most commonly presenting symptoms were abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%). Recurrent urinary tract infections (UTI) were documented in one-quarter of the patients, while 20.5% of them developed hypertension during the long-term follow-up. Antibiotic prophylaxis and antihypertensive treatment were the most employed therapeutic modalities. Seventeen patients progressed to chronic kidney disease (CKD), with thirteen of them eventually reaching end-stage renal disease (ESRD). The time from the initial detection of cysts on an ultrasound (US) to the onset of CKD across the entire cohort was 59.0 (7.0-31124.0) months, whereas the duration from the detection of cysts on an US to the onset of ESRD across the whole cohort was 127.0 (33.0-141.0) months. The median follow-up duration in the cohort was 3.0 (1.0-7.0) years. The patients who progressed to ESRD had clinical symptoms at the time of initial clinical presentation. Conclusion: This study is the first large cohort of patients reported from Croatia. The most common CyKD was the multicystic dysplastic kidney disease. The most common clinical presentation was abdominal distention, abdominal pain, and oliguria. The most common long-term complications were recurrent UTIs, hypertension, CKD, and ESRD.
... En Ghana, Okyere y col. identificaron que la prevalencia de ERP era más frecuente en el rango de edad de 31-46 años (25,6 %) (43). En cuanto a la distribución por sexo, hay correspondencia con los datos obtenidos por estudios realizados por Yu y col. ...
... Difiere de otras poblaciones como en el estudio de Okyere y col. (43), en el cual se identificó el estadio I como el más frecuente, pero con resultados similares al presente estudio respecto al estadio V, lo cual muestra el grado de daño renal que puede producir esta patología. ...
... El o los antihipertensivos de elección, o la cifra óptima de PA, todavía no se han determinado. Los inhibidores de la enzima de conversión de la angiotensina (IECA) y los antagonistas del receptor de angiotensina II (ARAII), además de controlar la presión arterial, aumentan el flujo sanguíneo renal, tienen pocos efectos secundarios, y podrían tener propiedades renoprotectoras adicionales (43). Los pacientes ERP con HTA del presente estudio fueron tratados principalmente con ARA II. ...
: La enfermedad renal poliquística (ERP)
es una enfermedad autosómica dominante causada
por la mutación principalmente de los genes PKD1
y PKD2, y la formación de quistes progresivos en el
tiempo. Este estudio caracteriza los aspectos clínicos
y epidemiológicos de pacientes con ERP atendidos en
un centro de referencia. Métodos: Estudio de corte
trasversal retrospectivo. Se obtuvo 54 registros de
pacientes con ERP. Se analizaron datos demográficos,
clínicos, bioquímicos, imagenológicos y terapéuticos
mediante el uso del software (SPSS 23). Resultados:
La edad media fue 56,9±12,8 años, el promedio de
edad al diagnóstico 48,2 años; sexo predominante
masculino (61 %). El síntoma clínico más frecuente el
dolor abdominal (31 %); la manifestación extrarrenal
más encontrada fue la poliquistosis hepática
(24 %); el estadio renal II fue el más común (24 %),
el antecedente predominante fue la HTA (26 %).
Presentaron antecedente de ERP (16 %); el tratamiento
habitual fue ARA II (34 %). 24 % de los pacientes
recibieron terapia de remplazo renal. Conclusiones:
La ERP afecta principalmente a personas de 56 años,
predominio masculino. Entre los hallazgos clínicos
se encuentra el dolor abdominal; las manifestaciones
extrarrenales más frecuentes: poliquistosis hepática,
hernias y la enfermedad diverticular; la HTA constituye
el antecedente más frecuente. La hemodiálisis fue la
modalidad sustitutiva más usada
... [16] Another study also reported excessively enlarged kidneys due to formation and enlargement of numerous cysts. [17] Conclusions Diagnosis of PKD with pedigree analysis shows value of genetic counseling followed by decision-making, early diagnosis, and better management and prognosis of the disease. ...
Background: Polycystic kidney disease (PKD), an inheritance disorder which is the fourth leading cause of the end‑stage renal disease. The inheritance pattern can be diagnosed and confirmed by pedigree analysis. The aim of the present research was to determine the type and frequency of PKD using pedigree analysis. Materials and Methods: The present research was designed as a cross‑sectional descriptive study. Thirty‑eight adult Bangladeshi PKD patients were recruited using a selection checklist from the Department of Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. Data were collected using a data collection sheet after taking informed written consent. The pedigree was drawn using the genetic pedigree chart creation software f‑tree V4.0.6. The percentage frequencies of different types of pedigree were calculated
using the Statistical Package for the Social Sciences software, version 23. Results: A total of 24 (63.20%) had a positive family history and 36.80% (14) had no positive family history. All of the patients with a positive family history had vertical transmission; male and female were equally inheriting the gene. Out of these 24 patients, 4.17% (one), 8.33% (two), and 16.67% (four) had a homozygous/heterozygous state, skip generation, and male to male transmission, respectively.
Conclusions: Pedigree analysis of PKD patients showed an increased value in early diagnosis and better management and prognosis of the disease.
... [16] Another study also reported excessively enlarged kidneys due to formation and enlargement of numerous cysts. [17] Conclusions Diagnosis of PKD with pedigree analysis shows value of genetic counseling followed by decision-making, early diagnosis, and better management and prognosis of the disease. ...
Background
Polycystic kidney disease (PKD), an inheritance disorder which is the fourth leading cause of the end-stage renal disease. The inheritance pattern can be diagnosed and confirmed by pedigree analysis. The aim of the present research was to determine the type and frequency of PKD using pedigree analysis.
Materials and Methods
The present research was designed as a cross-sectional descriptive study. Thirty-eight adult Bangladeshi PKD patients were recruited using a selection checklist from the Department of Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. Data were collected using a data collection sheet after taking informed written consent. The pedigree was drawn using the genetic pedigree chart creation software f-tree V4.0.6. The percentage frequencies of different types of pedigree were calculated using the Statistical Package for the Social Sciences software, version 23.
Results
A total of 24 (63.20%) had a positive family history and 36.80% (14) had no positive family history. All of the patients with a positive family history had vertical transmission; male and female were equally inheriting the gene. Out of these 24 patients, 4.17% (one), 8.33% (two), and 16.67% (four) had a homozygous/heterozygous state, skip generation, and male to male transmission, respectively.
Conclusions
Pedigree analysis of PKD patients showed an increased value in early diagnosis and better management and prognosis of the disease.
... In our study, the mean age at diagnosis was 47 ± 18 years, ranging BourquIA et al., 1989;Laleye et al., 2012;Okyere et al., 2021]). In contrast, the mean age was around (40 ± 4.2 years) in Albanes patients [Idrizi et al., 2009], 53.4 ± 14.8 years in French patients [Cornec-Le Gall et al. 2013] and 42.6 ± 8.4 years in Korean patients [Kim et al., 2019], 45.8 ± 14.5 years in Indian populations [Vikrant et Parashar. ...
A high prevalence of genetic kidney disease in Tunisia has been detected, and their study provides very important clinical and genetic information. Autosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of morbidity and mortality associated with the kidneys in Tunisia. We present here clinical and genetic characteristics of a cohort of Tunisian patients with ADPKD. Nineteen Tunisian patients with ADPKD, among 4 familial cases and 11 sporadic cases, and 50 Healthy individuals were included in this cohort. Genetic studies of PKD1/2 were carried on using Sanger sequencing and MLPA. In our study, the mean age at diagnosis was 47 ± 18 years. In addition, 84.21% of cases present a family history of ADPKD. Overall, 57.89% of the affected individuals had HTA and 26.31% patients had hematuria. 15.78 % of the patient has extra-renal cysts i.e. one patient with splenic cysts and two patients had liver cysts. 57.89 % of patients were diagnosed with various extra-renal clinical presentations i.e. myopia, hernia, deafness, intracranial aneurysm, respiratory distress, hyperthyroidism, urinary tract infection and lower back pains. The PKD1 genotype showed earlier onset of ESRD compared to PKD2 genotype (43 vs. 55 years old). Six mutations have been detected in PKD1 gene. Among them, three were novels e.g. c.688 T>G, p.C230G and c.690C>G, p.C230W among exon 5 and c.8522A>G, p.N2841S among exon 23. In addition, thirteen single nucleotides polymorphisms have been reported in PKD1 gene. Among them, eleven previously reported in heterozygous state and two novel single nucleotides polymorphisms in heterozygous and homozygous state and predicted to be probable polymorphisms by computational tools: c.496C>T, p.L166= among the exon 4, and c.10165G>C and p.E3389Gln among the exon 31. Only three single nucleotides polymorphisms previously reported in ADPKD database have been identified in PKD2 gene. The description and analysis of our cohort can help in rapid and reliable diagnosis for early management of patients in Tunisia. Indeed, predictive genetic testing can facilitate donor evaluation and increase living related kidney transplantation.
BACKGROUND
Polycystic kidney disease (PKD) is the most common genetic cause of kidney disease. It is a progressive and irreversible condition that can lead to end-stage renal disease and many other visceral complications. Current comprehensive data on PKD patterns in Africa is lacking.
AIM
To describe the prevalence and outcomes of PKD in the African population.
METHODS
A literature search of PubMed, African journal online, and Google Scholar databases between 2000 and 2023 was performed. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses were followed to design the study. Clinical presentations and outcomes of patients were extracted from the included studies.
RESULTS
Out of 106 articles, we included 13 studies from 7 African countries. Ten of them were retrospective descriptive studies concerning 943 PKD patients with a mean age of 47.9 years. The accurate prevalence and incidence of PKD were not known but it represented the third causal nephropathy among dialysis patients. In majority of patients, the diagnosis of the disease was often delayed. Kidney function impairment, abdominal mass, and hypertension were the leading symptoms at presentation with a pooled prevalence of 72.1% (69.1–75.1), 65.8% (62.2–69.4), and 57.4% (54.2–60.6) respectively. Hematuria and infections were the most frequent complications. Genotyping was performed in few studies that revealed a high proportion of new mutations mainly in the PKD1 gene.
CONCLUSION
The prevalence of PKD in African populations is not clearly defined. Clinical symptoms were almost present with most patients who had kidney function impairment and abdominal mass at the diagnostic. Larger studies including genetic testing are needed to determine the burden of PKD in African populations.
