Polycystic kidney disease differentiating polycystic kidney disease from other diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Overview

Several cystic diseases can have features of ADPKD namely autosomal recessive polycystic kidney disease (ARPKD, simple renal cysts, autosomal dominant polycystic liver disease, medullary cystic kidney disease and tuberous sclerosis complex.

Differentiating Polycystic kidney disease from other Diseases

Several cystic diseases can have a presentation similar to ADPKD especially given the variability in phenotype and severity. Below is a list of the most common cystic diseases in the differential diagnosis of autosomal dominant polycystic kidney disease:

• Autosomal recessive polycystic kidney disease
• Simple renal cysts
• Autosomal dominant polycystic liver disease
• Medullary cystic kidney disease
• Tuberous sclerosis complex
• Von Hippel-Lindau disease
• Nephronophthisis
• Joubert syndrome
• Bardet-Biedel syndrome
• Meckel-Gruber syndrome
• Orofacial digital syndrome type 1
• Glomerulocystic kidney disease

• [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
• [Disease name] must be differentiated from [differential dx1], [differential dx2], and [differential dx3].

• As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].

Preferred Table

Diseases	Clinical manifestations							Para-clinical findings							Gold standard	Additional findings
	Symptoms				Physical examination
								Lab Findings			Imaging			Histopathology
	Flank/abdominal pain	Polyuria / nocturia	Hematuria	Age	Hepatomegaly	Bilateral flank masses	Hypertension	Lab 1	Lab 2	Lab 3	Imaging 1	Imaging 2	Imaging 3
Autosomal dominant polycystic kidney disease (ADPKD)	+	+	+		+	+	+									Extrarenal manifestations: -Hepatic cysts -Pancreatic cysts -Ultrasonography of parents will show cysts
Autosomal recessive polycystic kidney disease (ARPKD)	+	+	+		+	+	+									Extrarenal manifestations: -Portal fibrosis -Portal hypertension -Ascending cholangitis -Biliary dysgenesis -Pulmonary hypoplasia in neonates -Ultrasonography of parents will not show cysts
Simple renal cyst				≥ 30 yrs												-Negative family history of renal cystic disease
Medullary cystic kidney disease
Tuberous sclerosis complex
Von Hippel-Lindau disease