Symptoma

Autosomal Dominant Polycystic Kidney Disease 1

PKD1

[…] kidney function and eventually end-stage renal disease by the fifth or sixth decade of life. 2 Worldwide, about 12.5 million people have ADPKD, and it accounts for about 10% of cases of end-stage renal disease. 1,3,4 ADPKD has a variety of clinical presentations [mdedge.com]

A few prognostic factors for disease progression are presently available to aid in the identification of earlier supportive treatment needs. [ajpb.com]

This leads to progressive impairment of renal function. 7 Patient presentation and history The initial workup of a patient presenting with ADPKD should include a full history and physical exam. [clinicaladvisor.com]

Referral should be considered for patients presenting with cystic renal disease, or those who may be at risk of this. [newcastle-hospitals.org.uk]

Physical signs at presentation in elderly patients with ADPKD. The most common presentation was hypertension in 70.6%. [pubs.sciepub.com]

  • Localized Pain

    Infected cysts cause localized pain or tenderness, fever, leukocytosis, elevated erythrocyte sedimentation rate, and high serum concentration of alkaline phosphatase 65. The rupture of a hepatic cyst can cause acute abdominal pain and ascites. [revistanefrologia.com]

  • Abdominal Fullness

    However, a recent report of the HALT-PKD trials showed that symptoms relating to abdominal fullness and pain are greater in patients with more advanced disease. 13 Additionally, while a relationship between loss of kidney function and increasing healthcare [ajpb.com]

  • Long Arm

    A second defect, termed ADPKD type 2 (ADPKD2), is responsible for 10-15% of ADPKD cases and is found on the long arm of chromosome 4. [emedicine.medscape.com]

  • Hyperactivity

    Angiotensin I is converted to angiotensin II by ACE in distal tubules, which in turn stimulates angiotensin II receptors, causing sodium and water retention in distal tubules. 37 This may be responsible for hypertension in the initial stages; however, RAAS hyperactivity [mdedge.com]

ADPKD workup In the initial workup of an individual with ADPKD, special attention should be given to the family history, social history, and medical history as well as to the genitourinary, GI, and cardiac/vascular portions of the physical exam. [clinicaladvisor.com]

Kashani, Biomarkers for Early Detection of Acute Kidney Injury, The Journal of Applied Laboratory Medicine: An AACC Publication, September 2017, jalm.2017.023325; DOI: 10.1373/jalm.2017.023325 (May 1, 2017) Arora, P Chronic Kidney Disease Workup. [labtestsonline.it]

REFERENCES • 1. 907-workup • 2.Davidson principle and practice 22nd edition • 3.Pathophysiology of polycystic kidney disease,experimental studies by Jeron Nauta [slideshare.net]

Indications for MRA are as follows [6, 7] : Family history of stroke or intracranial aneurysms Development of symptoms suggesting an intracranial aneurysm Job or hobby in which a loss of consciousness may be lethal Past history of intracranial aneurysms See Workup [emedicine.medscape.com]

  • Pyuria

    Pyuria is common even without bacterial infection; thus diagnosis of infection should be based on culture results and clinical findings (eg, dysuria, fever, flank pain) as well as urinalysis. [merckmanuals.com]

    In the past, the incidence of urinary tract infection may have been overestimated in ADPKD because of the frequent occurrence of sterile pyuria. [revistanefrologia.com]

  • Abnormal Renal Function

    Mean age of rupture is lower than in the general population (39 years vs 51 years) and may not be associated with abnormal renal function or blood pressure. [patient.info]

No treatments are currently approved for ADPKD. Early supportive treatment of symptoms to slow disease progression may reduce healthcare utilization and costs by reducing disease burden. [ajpb.com]

Most patients with polycystic liver disease have no symptoms and require no treatment 62. The treatment of symptomatic disease includes the avoidance of estrogens and the use of H2 blockers or proton pump inhibitors for symptomatic relief. [revistanefrologia.com]

Treatment Treatment is symptomatic in the case of ADPKD and also includes monitoring for complications such as heart valve disease and brain aneurysms. In children with ARPKD, treatment is more urgent and intensive. [news-medical.net]

Treatment may include: Pain medication Surgery to shrink cysts and relieve pain Treatment for high blood pressure Treatment for urinary tract infections Dialysis Kidney transplantation Autosomal recessive PKD (inherited) Autosomal recessive PKD is a rare [stanfordchildrens.org]

[…] failure / systemic arterial hypertension / portal hypertension JUVENILE FORM · 10% of tubules involved gross hepatic fibrosis bile duct proliferation · Disease appears at 1-5 years of age · Prognosis: death from portal hypertension · The less severe [learningradiology.com]

Prognosis In ARPKD, the prognosis depends on how early the cysts start to develop. Thus if a developing fetus shows kidney cysts, the disease is more severe than if the cysts first occur after birth. [news-medical.net]

"Polycystic kidney disease: inheritance, pathophysiology, prognosis, an IJNRD". International Journal of Nephrology and Renovascular Disease : 69. doi : 10.2147/IJNRD.S6939. Retrieved 2015-08-01. External links [ edit ] [en.wikipedia.org]

However, with Logistic regression analysis only anemia was found to be independent risk factor associated with a poor renal prognosis (p 0.03). [pubs.sciepub.com]

Disease progression and prognosis is quite variable, depending on both genetic and non-genetic factors. [snpedia.com]

[ edit ] Two main types Autosomal Dominant PKD (adult PKD) Autosomal Recessive PKD (infantile PKD) ADPKD [ edit ] Etiology and Natural History gene PKD1 mutated in about 85% of cases gene PKD2 mutated in about 15% of cases symptoms usually develop beginning [en.wikibooks.org]

This coincidence makes us inevitably think about a common etiological factor to kidney and infertility anomalies. [elsevier.pt]

Martinez JR, Gramtham JJ: Polycystic kidney disease: Etiology, pathogenesis, and treatment. Dis Mon 1995;16:693–765. Riccardi VM: Neurofibromatosis: Phenotype, Natural History and Pathogenesis, ed 2. Baltimore, Johns Hopkins University Press, 1992. [karger.com]

Grantham JJ: The etiology, pathogenesis, and treatment of autosomal dominant polycystic kidney disease: recent advances. Am J Kidney Dis 28:788–803, 1996. PubMed Google Scholar 14. [link.springer.com]

(Etiology) Polycystic Kidney Disease is an inherited genetic disorder. [dovemed.com]

Epidemiology of ADPKD: Incidence and Prevalence No primary epidemiology studies for ADPKD, including incidence and prevalence or other important measures (ie, age at onset, disease severity by age, mortality by age) were conducted during the period covered [ajpb.com]

PKD1, chromosome 16p, most common) and polycystin 2 (PDK2, chromosome 4q) Also associated with TSC2 / PKD1 contiguous gene syndrome ( Am J Surg Pathol 2002;26:198 ) Usually inherited; new mutations without a family history occur in approximately 10% Epidemiology [pathologyoutlines.com]

Prevalence and epidemiology ADPKD has an estimated prevalence of one case in every 500 people, affecting approximately 600,000 Americans and as many as four to six million people worldwide. 4 As the most common inherited disorder of the kidneys in humans [clinicaladvisor.com]

The disease database EPIDEMIOLOGY Polycystic kidney disease is the most common life-threatening genetic disease, affecting approximately 7 million people worldwide. [flipper.diff.org]

View Article PubMed Google Scholar Shaw C, Simms RJ, Pitcher D, Sandford R: Epidemiology of patients in England and Wales with autosomal dominant polycystic kidney disease and end-stage renal failure. [bmcnephrol.biomedcentral.com]

This article gives an overview of hypertension, cardiac complications, and intracranial aneurysms in ADPKD, their pathophysiology, and recent developments in their management. [mdedge.com]

Pathophysiology A decrease in urine-concentrating ability is an early manifestation of ADPKD. The cause is not known. [slideshare.net]

"Polycystic kidney disease: inheritance, pathophysiology, prognosis, an IJNRD". International Journal of Nephrology and Renovascular Disease : 69. doi : 10.2147/IJNRD.S6939. Retrieved 2015-08-01. External links [ edit ] [en.wikipedia.org]

[…] polycystin 2 (PDK2, chromosome 4q) Also associated with TSC2 / PKD1 contiguous gene syndrome ( Am J Surg Pathol 2002;26:198 ) Usually inherited; new mutations without a family history occur in approximately 10% Epidemiology 1 - 2 / 1000 births Males female Pathophysiology [pathologyoutlines.com]

Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. Pediatr Res. 2014 Jan;75(1-2):148-57. doi: 10.1038/pr.2013.191. Epub 2013 Oct 31. Review. Sweeney WE, Avner ED. [ghr.nlm.nih.gov]

Early diagnosis and aggressive management of high blood pressure, specifically with agents that block the renin-angiotensin-aldosterone system, are necessary to prevent left ventricular hypertrophy and progression of renal failure in ADPKD. [mdedge.com]

Reassure that this could not have been prevented Recommended Follow-up for PKD [ edit ] renal ultrasounds to monitor cysts and function control of hypertension CT scan to detect aneurysm (ADPKD) monitor liver function Resources [ edit ] PKD foundation [en.wikibooks.org]

Prevention - Polycystic Kidney Disease - Type 1 Not supplied. Diagnosis - Polycystic Kidney Disease - Type 1 The main method used to diagnose APKD is an ultrasound. [checkorphan.org]

However, some people with ARPKD do not develop signs or symptoms until later in childhood or even adulthood Can I prevent PKD? Researchers have not yet found a way to prevent PKD. [my.clevelandclinic.org]

This involves controlling high blood pressure, restricting protein in the diet, controlling build up of acid (acidosis) and preventing elevated levels of phosphate (hyperphosphatemia). [genome.gov]