Ciliopathy

What is Ciliopathy?

A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.

Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it is possible for ciliopathies to be associated with proteins such as XPNPEP3, which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins.

Significant advances in understanding the importance of cilia were made beginning in the mid-1990s. However, the physiological role that this organelle plays in most tissues remains elusive. Additional studies of how ciliary dysfunction can lead to such severe disease and developmental pathologies is a subject of current research.

Questions and answers on "Ciliopathy"

what is e/o simple cortical cyst in the upper lobe of the right kidney measuring 3.4x3.0 cms and what happens due to this...

doctor1 MD

Hi,
Welcome to HCM and thanks for your query.
Simple renal cortical cysts have been increasingly found due to widespread usage of ultrasound scan...

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My 86 yo mother was diagnosed with a UTI and hospitalized. KUB U/S showed bilateral polycistic kidney. This is all the information we have. She has...

doctor1 MD

Hello XXXXXXX
Polycystic kidneys do have a genetic link . It's develops from before birth . There are 2 types but the the prognosis goes towards...

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My Brother has Polycystic kidney problem and he is taking medication from last 6 years. His mother also had the same problem.

which way we have to...

doctor1 MD

Brief Answer:
ADPKD is an autosomal dominant

Detailed Answer:
Hi,

ADPKD is an autosomal dominant (* means high chances that sibling gets affected)...

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Recent questions on  Ciliopathy

doctor1 MD

I am a 52 yr old female and as yet am not in the menopause but I have been having my period for 2 weeks now. In this time I have light days but on...

doctor1 MD

Hi I have pkd of the liver and kidneys and pancreas. 2 days ago i got a sharp pain like a knife being jabbed into my back. It's hurt every since...

doctor1 MD

My mother had a kidney exam and we received following statement:IMPRESSION: Prominent bilateral renal pelves. Small postvoid residual. Left renal...

doctor1 MD

Hi there my husband has Polycystic Kidneys we had our children checked at around 8 years old to see if they had them.. they all seemed fine. But...

doctor1 MD

My husband is currently in Dubai and just received his test results for initially kidney stones and prostate issues. According to the ct scan and...

doctor1 MD

Over a year ago I was diagnosed through ultrasound as having an unremarkable cyst in mid lateral of my left kidney . Months prior to that diagnosis...

doctor1 MD

My Brother has Polycystic kidney problem and he is taking medication from last 6 years. His mother also had the same problem. which way we have to...

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