Focus on the differential diagnosis of cystic kidney diseases · the main renal cystic diseases (with their prevalence and characteristics) 2. Analyse the imaging findings (number

Post on 10-Oct-2020

2 Views

Category:

Documents

1 Downloads

Preview:

Click to see full reader

Transcript

18th Annual Congress of the BVIG-SBMI

December 13-14th, 2013, VUB Jette

Workshop Nephrology : case-based discussion

Focus on the differential diagnosis

of cystic kidney diseases

Yves Pirson

Nephrology Department

Clin. Univ. St-Luc, UCL

What is your most likely diagnosis ?

Cystic dysplasia

HNF1 /TCF2 disease

ADPKD

Medullary cystic disease

Medullary sponge kidney

What is your most likely diagnosis ?

Cystic dysplasia

HNF1 /TCF2 disease

ADPKD

Medullary cystic disease

Medullary sponge kidney

What is the (most useful) next imaging

technique to establish a diagnosis ?

Kidney MRI without gadolinium

Kidney MRI with gadolinium

Kidney US

Liver fibroscan

Liver CT

What is the (most useful) next imaging

technique to establish a diagnosis ?

Kidney MRI without gadolinium

Kidney MRI with gadolinium

Kidney US

Liver fibroscan

Liver CT

Polycystic liver disease and single kidney cysts

Hydatic cysts

ADPKD

ARPKD

Tuberous sclerosis

What is your diagnosis ?

What is your diagnosis ?

Polycystic liver disease and single kidney cysts

Hydatic cysts

ADPKD

ARPKD

Tuberous sclerosis

Contrast-CT

Gd-MRI

Tuberous sclerosis

Von Hippel-Lindau disease

Multiple oncocytomas

Cystic adenocarcinomas

ADPKD + adenocarcinoma

What is the most likely diagnosis ?

Tuberous sclerosis

Von Hippel-Lindau disease

Multiple oncocytomas

Cystic adenocarcinomas

ADPKD + adenocarcinoma

What is the most likely diagnosis ?

Pirson Y, Nephrol Dial Transpl 2013; 28: 1680

Normal

TSC1 and TSC2

genes

Mutated

TSC1 or TSC2

gene

Mutated

TSC1 or TSC2

gene

↓ ↓ ↓

Normal

TSC1 – TSC2

protein complex

Defective

TSC1 or TSC2

protein complex

Defective

TSC1 or TSC2

protein complex

Rheb Rheb Rheb

↓ ↓ ↓

mTOR ↑mTOR mTOR

↓ ↓ ↓

Cell proliferation,

angiogenesis…

Cell proliferation,

angiogenesis…

Cell proliferation,

angiogenesis…

CONTROLLED

A

ENHANCED

B

NORMALIZED

C

Sirolimus

Everolimus

Pirson Y, Nephrol Dial Transpl 2013; 28: 1680

Von Hippel-Lindau disease

Tuberous sclerosis

ADPKD + adenocarcinomas

Cystic adenocarcinomas

Multilocular cystic nephroma

What is your diagnosis ?

Von Hippel-Lindau disease

Tuberous sclerosis

ADPKD + adenocarcinomas

Cystic adenocarcinomas

Multilocular cystic nephroma

What is your diagnosis ?

How to investigate an adult subject

found with renal cysts ?

1. Keep in mind (or consult in a database …) the list of

the main renal cystic diseases

(with their prevalence and characteristics)

How to investigate an adult subject

found with renal cysts ?

1. Keep in mind (or consult in a database …) the list of

the main renal cystic diseases

(with their prevalence and characteristics)

2. Analyse the imaging findings (number and aspect of

cysts, uni- or bilaterality, kidney size, other, non cystic

abnormalities).

How to investigate an adult subject

found with renal cysts ?

1. Keep in mind (or consult in a database …) the list of

the main renal cystic diseases

(with their prevalence and characteristics)

2. Analyse the imaging findings (number and aspect of

cysts, uni- or bilaterality, kidney size, other, non cystic

abnormalities).

3. Integrate

- any extrarenal feature

- family history

4. If needed, investigate first-degree relatives

5. Genetic analysis if easily accessible (i.e. TCF2)

Atlas of diseases of the Kidney Volume II

Series Editor : Robert W. Schrier

http://www.kidneyatlas.org/toc.htm#vol2

top related