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- Clinical Physiology of the Kidneys
-
1. Molecular basis of genetic renal diseases 1
- Dr. Paul Jennings
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2. Molecular basis of genetic renal diseases 2
- Dr. Paul Jennings
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3. Assessment of renal function
- Dr. Jochen Raimann
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4. Isolated microhematuria and proteinuria in adults
- Dr. Eva Seiringer
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5. Intradialytic oxygen saturation
- Dr. Lili Chan
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6. Pervasive sensing in chronic kidney disease
- Ms. Maggie Han
- Ms. Schantel Williams
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7. The genetic basis of kidney cancer
- Dr. W. Marston Linehan
- Glomerular Disorders
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8. Focal segmental glomerulosclerosis
- Prof. Moin Saleem
- Tubular Interstitial Disorders
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9. What’s new for IgA nephropathy part 1: epidemiology and pathogenesis
- Prof. Maurizio Salvadori
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10. What’s new for IgA nephropathy part 2: clinical presentation, diagnosis, prognosis, treatment
- Prof. Maurizio Salvadori
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11. Renal complications of sickle cell disease
- Dr. Claire Sharpe
- Acute Kidney Injury
- Chronic Kidney Disease
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13. Pathophysiology of acute renal failure
- Dr. Viviane Calice-Silva
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14. Anaemia in chronic kidney disease
- Prof. Iain Macdougall
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15. Kidney disease and pregnancy: a new era?
- Dr. Kate Bramham
- Renal Cell Carcinoma
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16. The genetics and genomics of familial renal carcinoma
- Prof. Eamonn Maher
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17. Immune checkpoint blockade in renal cell carcinoma
- Prof. David McDermott
- Pharmacology and the Kidney
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19. Toxicology of the kidney
- Prof. Lawrence Lash
- Proteomics and the Kidney
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20. Proteomics in diabetic kidney disease
- Prof. Peter Rossing
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21. Urinary proteomics in kidney and cardiovascular disease
- Prof. Harald Mischak
- Pediatric Nephrology
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22. Continuous renal replacement therapy (CRRT) in children
- Prof. Timothy E. Bunchman
- Archived Lectures *These may not cover the latest advances in the field
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23. Proteomics in kidney disease: clinical considerations
- Prof. Peter Rossing
Printable Handouts
Navigable Slide Index
- Introduction
- Function of the kidney
- The nephron
- The kidney: limited regenerative capacity
- The kidney and disease
- Location of mutations affecting renal function
- OMIM - Online Mendelian Inheritance in Man
- The human protein atlas
- Glomerular diseases
- Glomerular basement membrane in normal kidney
- Glomerular basement membrane diseases
- Alport syndrome XLAS: OMIM #301052
- Mouse model of X-linked Alport syndrome
- Alport syndrome: GBM histopathology
- Other types of Alport syndrome
- Alport syndrome: clinical symptoms
- Pierson syndrome
- Laminin structure: sheet formation
- Pierson syndrome: OMIM #609051 (LAMB2)
- Age of onset of gross proteinuria and ESRD
- Clinical symptoms of Pierson syndrome
- Glomerulopathy with fibronectin deposits 2 (GFND)
- Biology of fibronectin
- GFND: OMIM #601894 (Fibronectin 1)
- Clinical symptoms of GFND
- Diseases of the slit diaphragm
- Environment of the slit diaphragm
- Nephrotic syndrome, type 1
- Biology of nephrin
- NPHS1 (OMIM #256300)
- NPHS1 knock-out mice
- Clinical symptoms of NPHS1
- Nephrotic syndrome, type 2
- Biology of podocin
- NPHS2 (OMIM #600995)
- Clinical symptoms nephrotic syndrome, type 2
- Nephrotic syndrome, type 3
- Biology of CD2AP
- Nephrotic syndrome, Type 3 (CD2AP)
- Denys-Drash syndrome
- Wilms tumor protein & Denys-Drash syndrome
- Clinical symptoms of Denys-Drash syndrome
Topics Covered
- Functions of the kidney
- Locations of mutations affecting renal function and homeostasis
- Genetically linked glomerular diseases
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Jennings, P. (2016, December 28). Molecular basis of genetic renal diseases 1 [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 31, 2024, from https://doi.org/10.69645/BZVI1367.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Paul Jennings has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Molecular basis of genetic renal diseases 1
Published on December 28, 2016
27 min
A selection of talks on Gastroenterology & Nephrology
Transcript
Please wait while the transcript is being prepared...
0:00
Hello and welcome.
My name is Paul Jennings.
I'm an Assistant Professor
at the Division of Physiology
in the Medical University of Innsbruck.
And today, I'd like to present
the Molecular Basis
of Genetic Renal Diseases.
0:15
The kidney is responsible
for whole body homeostasis.
It receives about 20%
of the cardiac output,
meaning that nearly 1,500 liters per day
are profused through the kidney.
And of this, 180 liters are filtered
through the kidney,
producing about
1 to 2 liters of urine per day.
Through this system,
water solutes including glucose, ions,
amino acids, and proteins,
and vitamins are reabsorbed.
Excess nutrients and waste products
and xenobiotics are eliminated.
In addition, the kidney
is extremely important
in the regulation
of the acid base balance
and the regulation of vitamin D
and the erythropoietin.
0:58
The functional unit
of the kidney is the nephron,
and here, I've drawn a cartoon of this
where the blood
leaves the endothelial cells
into the glomerulus,
and then from the glomerulus
into the proximal tubule,
into the thin descending
limb, the thick ascending limb,
the distal tubule,
and then the collecting duct.
Each region depicted here
has a different set of transporters
and proteins
which means that each region handles
glomerular filtrates differently.
1:28
The kidney unlike, for example,
the liver has a limited
regenerative capacity.
As I said, we started off
with approximately
1.5 million nephrons per kidney.
However, nephrons lost throughout life
due to processes
such as oxidative damage
and there is no de novo nephrogenesis
after birth.
There is also little
substantial evidence
for the existence
of adult renal progenitor cells.
Thus repair seems to be intrinsic
through the nephron itself and limited.
The functional capacity of the kidney
is several times more than required
which poses a problem in that
whole body homeostasis
is not compromised
until the majority of nephrons are lost,
and by that stage, it's usually
too late to do anything about it.