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
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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
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