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 Complications of Polycystic Kidney Disease and Relation With Disease Progression: An Observational Retrospective Study

2020 ◽  
Author(s):  
Mònica Pérez-Mir ◽  
Laura Carreras-Planella ◽  
Francesc Borràs ◽  
Josep Bonet ◽  
Maribel Troya
Keyword(s):  
Blood Pressure ◽  
Renal Function ◽  
Retrospective Study ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Kidney Function ◽  
High Blood Pressure ◽  
Inherited Disease ◽  
Polycystic Kidney ◽  
Renal Complication

Abstract Background: Autosomal dominant polycystic kidney disease (ADPKD) is a renal inherited disease characterized by the growth of bilateral renal cysts that lead to deterioration in renal function and end-stage renal disease (ESRD). These patients frequently present complications like urinary tract infection, acute pyelonephritis, acute or chronic pain, renal lithiasis or high blood pressure (HBP). The aim of this study is to compare the renal evolution in ADPKD patients with renal complications and/or HBP compared to those without complications nor HBP.Methods: Observational retrospective study of 29 ADPKD patients with normal renal function and <70 years followed up in our center. Clinical and analytical information of 2010, 2015 and 2017 were determined.Results: 29 patients were enrolled with a median age of 41 years [34-54], eighteen women (62,1%) and eleven men. Median of estimation of glomerular function rate (eGFR) was 85.8ml/min [70.7-115.6] in 2010, 76.0 ml/min [57.0-99.9] in 2015 and 63.1ml/min [45.0-95.8] in 2017. Eight patients (27.6%) have never had kidney complication nor HBP. Nine patients (31.0%) have normal blood pressure, 6 others (20.7%) have well controlled high blood pressure (HBP) and 14 (48.3%) have badly controlled HBP. When patients were divided between those who have never presented a complication (C-) and those who present renal complication and/or HBP (C+), the first group presented better kidney function. When patients were segregated into those who have never presented complication or well-controlled HBP (CHBP-) and those with renal complication and/or badly-controlled HBP (CHBP+) no differences were found at the initial eGFR, but a faster worsening of kidney function in CHBP+ group.Conclusions: In ADPKD patients, the decrease in eGFR is significantly important in individuals showing complications (including HBP) compared to those who did not present complications. Individuals with complications and badly-controlled HBP show even greater differences in kidney function decrease compared with patients without complications or well controlled HBP.

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 Autosomal recessive polycystic kidney disease diagnosed in a 39-year-old woman with kidney failure and cramps

2016 ◽  
Vol 36 (3) ◽  
pp. 318-320
Author(s):  
Víctor Martínez ◽  
Cristina Trasancos ◽  
Fernanda Ramos ◽  
Concepción Alcázar ◽  
Juan B. Cabezuelo ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Kidney Failure ◽  
Autosomal Recessive ◽  
Polycystic Kidney

scholarly journals Asymptomatic Pyuria as a Prognostic Biomarker in Autosomal Dominant Polycystic Kidney Disease

Kidney360 ◽  
2021 ◽  
pp. 10.34067/KID.0004292021
Author(s):  
Brian E. Jones ◽  
Yaman G. Mkhaimer ◽  
Laureano J. Rangel ◽  
Maroun Chedid ◽  
Phillip J. Schulte ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Disease Progression ◽  
Polycystic Kidney Disease ◽  
Kidney Function ◽  
Kidney Failure ◽  
Autosomal Dominant ◽  
Prognostic Biomarker ◽  
Kidney Volume ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Background: Autosomal dominant polycystic kidney disease (ADPKD) has phenotypic variability only partially explained by established biomarkers that do not readily assess pathologically important factors of inflammation and kidney fibrosis. We evaluated asymptomatic pyuria, a surrogate marker of inflammation, as a biomarker for disease progression. Methods: We performed a retrospective cohort study of adult patients with ADPKD. Patients were divided into asymptomatic pyuria (AP) and no pyuria (NP) groups. We evaluated the effect of pyuria on kidney function and kidney volume. Longitudinal models evaluating kidney function and kidney volume rate of change with respect to incidences of asymptomatic pyuria were created. Results: There were 687 included patients (347 AP, 340 NP). The AP group had more female (65.1% vs 49.4%). Median age at kidney failure was 86 and 80 years in NP and AP groups, respectively (Log-rank, p=0.49) for patients with Mayo Imaging Class (MIC)1A-1B as compared to 59 and 55 years for patients with MIC1C-1D-1E (Log-rank, p=0.02). Compared to NP group, the rate of kidney function (ml/min/1.73m2/year) decline shifted significantly after detection of asymptomatic pyuria in models including all patients (-1.48, p<0.001), MIC 1A-B patients (-1.79 , p<0.001), MIC 1C-1D-1E patients (-1.18, p<0.001), and PKD1 patients (-1.04, p<0.001). Models evaluating kidney volume rate of growth showed no change after incidence of asymptomatic pyuria as compared to NP group. Conclusions: Asymptomatic pyuria is associated with kidney failure and faster kidney function decline irrespective of the ADPKD gene, cystic burden, and cystic growth. These results support asymptomatic pyuria as an enriching prognostic biomarker for the rate of disease progression.-

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.

The adult with renal cysts

2015 ◽  
Author(s):  
Yves Pirson ◽  
Olivier Devuyst
Keyword(s):  
Family History ◽  
Kidney Disease ◽  
Renal Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Renal Cysts ◽  
Inherited Disease ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Cysts in children are unusual except in the context of congenital or inherited disease, but simple cysts become more common with age. So do the cysts of the most common inherited renal disease, autosomal dominant polycystic kidney disease, so number of cysts, age, family history, and associated findings are all relevant. Localization and size, shape of cysts may point to other diagnoses as discussed in this chapter.

Sign in / Sign up

Export Citation Format

Share Document