Clinical Manifestations of Asymptomatic Polycystic Kidney Disease

2010 ◽  
Vol 25 (1) ◽  
pp. 6-6
Author(s):  
L. A. Greenbaum
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Clinical Manifestations ◽  
Polycystic Kidney

scholarly journals Autosomal dominant polycystic kidney disease and pioglitazone for its therapy: a comprehensive review with an emphasis on the molecular pathogenesis and pharmacological aspects

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Aryendu Kumar Saini ◽  
Rakesh Saini ◽  
Shubham Singh
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Regulatory Body ◽  
Therapeutic Effects ◽  
Peroxisome Proliferator ◽  
Polycystic Kidney ◽  
Renal Disorder ◽  
Autosomal Dominant Polycystic Kidney

AbstractAutosomal dominant polycystic kidney disease (ADPKD) is an inherited chronic kidney disorder (CKD) that is characterized by the development of numerous fluid-filled cysts in kidneys. It is caused either due to the mutations in the PKD1 or PKD2 gene that encodes polycystin-1 and polycystin-2, respectively. This condition progresses into end-stage renal disorder if the renal or extra-renal clinical manifestations remain untreated. Several clinical trials with a variety of drugs have failed, and the only Food and Drugs Administration (FDA) approved drug to treat ADPKD to date is tolvaptan that works by antagonizing the vasopressin-2 receptor (V2R). The pathology of ADPKD is complex and involves the malfunction of different signaling pathways like cAMP, Hedgehog, and MAPK/ERK pathway owing to the mutated product that is polycystin-1 or 2. A measured yet substantial number of preclinical studies have found pioglitazone to decrease the cystic burden and improve the renal function in ADPKD. The peroxisome proliferator-activated receptor-gamma is found on the epithelial cells of renal collecting tubule and when it gets agonized by pioglitazone, confers efficacy in ADPKD treatment through multiple mechanisms. There is only one clinical trial (ongoing) wherein it is being assessed for its benefits and risk in patients with ADPKD, and is expected to get approval from the regulatory body owing to its promising therapeutic effects. This article would encompass the updated information on the epidemiology, pathophysiology of ADPKD, different mechanisms of action of pioglitazone in the treatment of ADPKD with preclinical and clinical shreds of evidence, and related safety updates.

scholarly journals Polycystic kidney disease - autopsy review from the period 1987-2007

2008 ◽  
Vol 136 (Suppl. 4) ◽  
pp. 294-297
Author(s):  
Sanja Radojevic-Skodric ◽  
Ljiljana Bogdanovic ◽  
Milena Jovanovic ◽  
Ivana Baralic ◽  
Marina Savin ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Renal Insufficiency ◽  
Polycystic Kidney Disease ◽  
Cause Of Death ◽  
Clinical Manifestations ◽  
Morphological Characteristics ◽  
Pancreatic Cysts ◽  
Polycystic Kidney ◽  
Hepatic Cysts ◽  
End Stage

INTRODUCTION. Polycystic kidney disease is an inherited kidney disease that affects both kidneys and it is characterized by diffuse replacement of renal parenchyma by thousands of microcysts. In time, renal insufficiency develops. There are two forms of PKD: ADPKD, which is detected in adults (children are rarely affected), and ARPKD, which is detected in neonates (later presentations do occur, but rarely). OBJECTIVE. The aim of this study was to analyse frequency of polycystic kidney disease, clinical data and morphological characteristics. METHOD. At the Institute of Pathology, School of Medicine, Belgrade, there were detected 33 cases of ADPKD and 20 cases of ARPKD between 1987 and 2007. RESULTS. There were no differences between incidence of ADPKD in males and females. Average age of patients with ADPKD was 52 years. In 20 (66.7%) cases of ADPKD there were neither extrarenal cysts nor extrarenal manifestations detected. In other 13 cases, we detected extrarenal cysts: hepatic cysts in 8 cases, pancreatic cysts in 5 cases. In two cases, hepatic cysts were associated with intracranial (arachnoid cysts) and extracranial aneurysms. The most frequent cause of death in patients with ADPKD was end-stage disease. ARPKD affects more often male children compared to female. 70% of children with ARPKD were male. The mean age of patients with ARPKD was 1 month. 5 patients (40%) had hepatic fibrosis. The most frequent cause of death was respiratory insufficiency (75%). In 25% of patients, the cause of death was sepsis and renal insufficiency. CONCLUSION. Morphological and clinical manifestations of the analysed cases of both types of PKD are fairly consistent with literature data. Better knowing of aethiopathogenesis of PKD will facilitate early diagnosis, based on clinical and morphological characteristics and better management of the disease.

Autosomal-recessive polycystic kidney disease in children

2016 ◽  
Vol 7 (4) ◽  
pp. 45-49 ◽  
Author(s):  
Elvira F Andreeva ◽  
Nadejda D Savenkova ◽  
Mohamed A Tilouche ◽  
Natalya Y Natochina ◽  
Igor V Dug
Keyword(s):  
Portal Hypertension ◽  
Kidney Disease ◽  
Arterial Hypertension ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Varicose Veins ◽  
Clinical Manifestations ◽  
Polycystic Kidney ◽  
Stage Renal Disease ◽  
Neonates And Infants

The aim of the study was to assess the features of development of renal and extrarenal cysts, arterial hypertension, syndrome of portal hypertension in autosomal recessive polycystic kidney disease (ARPKD) in children. Patients and me­thods. With the aim of establishing the type of inheritance of polycystic kidney disease the genealogical analysis of 12 families, clinical ultrasound of the kidneys and abdominal organs, computed tomography. The study included 14 children with ARPKD. Conducted follow-up study of 14 children with ARPKD to determine the age by the detection of cysts based on ultrasound, the features of the initial clinical manifestations and course, complications and outcome.Results: the Age of the children back to the time of detection of the cysts in the kidneys based on ultrasound when ARPKD was 2.3 ± 0.4 month. Identified a high incidence of arterial hypertension in neonates and infants with ARPKD at 92.9%. Extrarenal location of the cysts is set at 71.4%. Syndrome of portal hypertension, bleeding from varicose veins of esophagus and stomach, melanau installed in 5 (35,7%) children. Of the 14 in 5 (35,7%) patients diagnosed ARPKD children with liver fibrosis, which has a favorable prognosis without the formation of renal failure in infants and early childhood, 9 (64,3%) diagnosed with classic ARPKD in neonates and infants that is characterized by progression to end-stage renal disease in the first year of life.

Clinical Manifestations of Autosomal Dominant Polycystic Kidney Disease in Patients Older Than 50 Years

1990 ◽  
Vol 15 (3) ◽  
pp. 237-243 ◽  
Author(s):  
Jovan Milutinovic ◽  
Philip J. Fialkow ◽  
Lawrence Y. Agodoa ◽  
Leon A. Phillips ◽  
Thomas G. Rudd ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

2013 ◽  
Vol 29 (10) ◽  
pp. 1915-1925 ◽  
Author(s):  
Rainer Büscher ◽  
Anja K. Büscher ◽  
Stefanie Weber ◽  
Julia Mohr ◽  
Bianca Hegen ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Polycystic Kidney

scholarly journals Hepatic Cysts as a Manifestation of Polycystic Kidney Disease (Polycystic Liver Report of 2 Mother-Son Cases)

2021 ◽  
Vol 1 (3) ◽  
pp. 23-30
Author(s):  
Osnaya-Romero N ◽  
Conrado S ◽  
Dautt P
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Kidney Failure ◽  
Abdominal Cavity ◽  
Clinical Manifestations ◽  
Well Being ◽  
Abdominal Ultrasound ◽  
Hereditary Disease ◽  
Inherited Disease ◽  
Polycystic Kidney

Polycystic kidney disease is an inherited disease that can lead to high blood pressure and kidney failure. In Mexico, 4.5% of patients with kidney failure are carriers of this disease; the liver is another of the organs affected by this disease that can manifest as abdominal pain and a mass effect in the abdominal cavity; we present 2 cases of polycystic kidney and liver disease (mother and child), in addition to describing the clinical manifestations, two different stages of the disease are shown, being a hereditary disease it is suggested that once a case is identified, an abdominal ultrasound is performed to first-degree relatives in search of cystic lesions to indicate preventive measures that help us preserve the overall well-being of the patient.

scholarly journals Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

2021 ◽  
Author(s):  
Shinya Ishiko ◽  
Naoya Morisada ◽  
Atsushi Kondo ◽  
Sadayuki Nagai ◽  
Yuya Aoto ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Clinical Features ◽  
Japanese Population ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Systemic Hypertension ◽  
Polycystic Kidney ◽  
Truncating Mutation ◽  
Minigene Assay

Abstract Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered. We aimed to analyze the clinical features of genetically diagnosed ARPKD in the Japanese population. Methods We conducted a genetic analysis of patients with clinically diagnosed or suspected ARPKD in Japan. Moreover, we performed a minigene assay to elucidate the mechanisms that could affect phenotypes. Results PKHD1 pathogenic variants were identified in 32 patients (0–46 years). Approximately one-third of the patients showed prenatal anomalies, and five patients died within one year after birth. Other manifestations were detected as follows: chronic kidney disease stages 1–2 in 15/26 (57.7%), Caroli disease in 9/32 (28.1%), hepatic fibrosis in 7/32 (21.9%), systemic hypertension in 13/27 (48.1%), and congenital hypothyroidism in 3 patients. There have been reported that truncating mutations in both alleles led to severe phenotypes with perinatal demise. However, one patient without a missense mutation survived the neonatal period. In the minigene assay, c.2713C > T (p.Gln905Ter) and c.6808 + 1G > A expressed a transcript that skipped exon 25 (123 bp) and exon 41 (126 bp), resulting in an in-frame mutation, which might have contributed to the milder phenotype. Missense mutations in cases of neonatal demise did not show splicing abnormalities. Conclusion Clinical manifestations ranged from cases of neonatal demise to those diagnosed in adulthood. The minigene assay results indicate the importance of functional analysis, and call into question the fundamental belief that at least one non-truncating mutation is necessary for perinatal survival.

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