CFHR5 Nephropathy or Troodos Nephropathy- This pathological condition of the kidney is a genetic disorder as a result of mutation in gene CFHR5 in which there is presence of hematuria. This disease is prevalent in Cyprus and till date has not been found out of Cyprus. In this article, we will discuss in detail the clinical presentation, diagnosis, causes, and treatment for CFHR5 Nephropathy or Troodos Nephropathy.
How Is CFHR5 Nephropathy or Troodos Nephropathy Defined?
CFHR5 Nephropathy, which is also known by the name of Troodos Nephropathy is an inherited kidney dysfunction, which till date has only been found in Cyprus. This disease is caused as a result of mutation in gene CFHR5. As of today, this disease has not been found in individuals of any descent other than Cypriots.
What Is The Function Of CFHR5 Gene?
The CFHR5 gene plays a vital role in regulation of a branch of innate immune system known as alternative complement pathway.
Causes of CFHR5 Nephropathy or Troodos Nephropathy
The major cause of CFHR5 Nephropathy or Troodos Nephropathy is the mutation in gene CFHR5.
Symptoms of CFHR5 Nephropathy or Troodos Nephropathy
The major symptom of CFHR5 Nephropathy or Troodos Nephropathy is the presence of microscopic amount of blood in urine, which can easily be observed on routine urine Dipstick. In some instances, there can be hematuria as well usually in association with some sort of infection, which is believed to be due to stimulation of immune system resulting in kidney damage.
Diagnosis of CFHR5 Nephropathy or Troodos Nephropathy
The diagnosis of CFHR5 Nephropathy or Troodos Nephropathy can be confirmed on blood sample and by doing genetic tests.
Renal biopsy can also be done for confirmatory diagnosis of CFHR5 Nephropathy or Troodos Nephropathy. The biopsy will typically show deposition of complement C3 in the kidney without the presence of immunoglobulins.
Treatment CFHR5 Nephropathy or Troodos Nephropathy
A clear cut treatment for CFHR5 Nephropathy or Troodos Nephropathy is still a subject of ongoing research in order to prevent renal failure from developing in individuals with CFHR5 Nephropathy.
Prognosis of CFHR5 Nephropathy or Troodos Nephropathy
Over time affected individuals tend to develop renal failure requiring dialysis or kidney transplant. For some unknown reasons, only males tend to develop renal failure and females even after having hematuria do not develop renal failure. In some instances, this disease is known to occur even after a kidney transplant, but usually after transplant the affected individual tends to have a normal life.