What is Autosomal Dominant Polycystic Kidney Disease?

Autosomal Dominant Polycystic Kidney Disease
Cyst infection in autosomal dominant polycystic kidney disease/autosomal-dominant polycystic liver disease (ADPLD) documented by several imaging methods (A-G) and histology (H-I). A-C, chronic kidney disease (CKD) stage 5patient with kidney cyst infection (KCI). A, T2-weighted magnetic resonance imaging (MRI). Infected cyst in the right kidney, axial plane(arrow). B, Diffusion-weighted MRI (DWMRI). Infected cyst in right kidney shows restriction to diffusion (arrow). C,positron-emission tomography/computed tomography (PET/CT). A high correlation between T2-weighted MRI (A), DWMRI (B) andPET/CT in a CKD stage 5 patient with KCI (arrow). D, PET/CT.Multiple infected liver cysts after cyst fenestration in an ADPLD patient(arrows). E, PET/CT. Bilateral renal infected cysts (arrows), coronal plane. Imaging analysis reveals increased cyst-lining 18FDGactivity and signal accumulation within the cyst (inferior pole, right kidney). F, PET/CT. Concomitant kidney and liver cyst infection(arrows), axial plane. G, CT scan. Left kidney with emphysematous cyst infection (arrows), axial plane. H, Smallliver cyst filled with neutrophils (arrows), small cysts containing no neutrophils (star), and large cysts lined by flat epithelium with no neutrophils (double stars; H&E, original magnification, 200×, bar: 100 μm).I, Myeloperoxidase immunohistochemistry showing a positive signal in neutrophils surrounding fibrous stroma (arrow) and within the cyst(original magnification, 400×, bar: 50 μm). Cyst infection in hospital-admitted autosomal dominant polycystic kidney disease patients is predominantly multifocal and associated with kidney and liver volume: Balbo BE, Sapienza MT, Ono CR, Jayanthi SK, Dettoni JB, Castro I, Onuchic LF - Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] (2014). Not altered. CC.

Autosomal dominant polycystic kidney disease is a genetic disorder also called adult polycystic kidney disease, characterized by renal failure following multiple expanding cysts of both kidneys that eventually destroy the renal parenchyma.

What is the Pathology of Autosomal Dominant Polycystic Kidney Disease?

The pathology of autosomal dominant polycystic kidney disease is: 

-Etiology: The cause of autosomal dominant polycystic kidney disease is genetic.

-Genes involved: PKD1 and PKD2 gene.

-Pathogenesis: The sequence of events that lead to autosomal dominant polycystic kidney disease follows a range of dissimilar mutations in PKD1 and PKD2 leading to numerous cellular fluctuations allied with cyst advancement.

-Morphology: The morphology associated with autosomal dominant polycystic kidney disease shows bilaterally enlargement of kidneys, composition of cyst masses.

-Histology: The histology associated with autosomal dominant polycystic kidney disease shows operational nephrons dispersed between the cysts which are filled with turbid, red to brown fluid.

How does Autosomal Dominant Polycystic Kidney Disease Present? 

Patients with autosomal dominant polycystic kidney disease typically high in males present at the age range of 50 to 70 years. The symptoms, features, and clinical findings associated with autosomal dominant polycystic kidney disease include asymptomatic, abdominal masses, proteinuria, polyuria, and hypertension.

How is Autosomal Dominant Polycystic Kidney Disease Diagnosed? 

Autosomal dominant polycystic kidney disease is diagnosed through imaging studies such as ultrasonography, CT scan, MRI/MRA. Laboratory studies such as genetic study, serum chemistry profile, urine culture, uric acid determination, intact parathyroid hormone assay.

How is Autosomal Dominant Polycystic Kidney Disease Treated? 

Autosomal dominant polycystic kidney disease is treated through pharmacological therapy for symptomatic support, vasopressin V2-receptor antagonist (tolvaptan). Surgical drainage of cystic fluid fill.

What is the Prognosis of Autosomal Dominant Polycystic Kidney Disease?

The prognosis of autosomal dominant polycystic kidney disease is fair.

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Last updated on May 24, 2022