Hereditary Nephritis, Hemorrhagic Familial Nephritis or Hereditary Deafness and Nephropathy
Prepared by: Dennis Lagos Kristian Pio Padilla Lumier de Juan Lara Joelen Lyka Suansing
Causes, incidence and risk factors Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys. It is an inherited form of kidney inflammation (nephritis). It is caused by a mutation in a gene for a protein in the connective tissue, called collagen. These mutations come from COL4A3, COL4A4, and COL4A5, collagen biosy nthesis genes.
The disorder is uncommon. It most often affects males. Women can pass the gene for the disorder to their children, even if they have no symptoms. Risk factors include: End-stage kidney disease in male relatives Family history of Alport syndrome Hearing loss before age 30
Symptoms The disorder damages the tiny blood vessels in the glomeruli of the kidneys. The glomeruli filter blood to make urine and remove waste products from the blood.
At first, there are no symptoms. However, the destruction of the glomeruli over time leads to blood in the urine and may decrease the effectiveness of the kidneys filtering system. Often kidney function is lost over time and waste products and fluids build up in the body.
Symptoms include: Abnormal urine color Ankle, feet and leg swelling Blood in the urine Decreased or loss of vision Loss of hearing Swelling around the eyeThe condition can progress to end-stage renal disease at an early age.
Signs and Tests Signs include: Changes to the eye, including the fundus, cataracts, or bulging of the lens. High blood pressure.
The following tests may be done: Audiometry BUN and serum creatinine Complete blood count Renal biopsy Urinalysis
Treatments Monitoring blood pressure. Treating chronic kidney disease through dialysis or kidney transplant. Surgery to repair cataracts. Hearing loss likely to be permanent. Genetic counseling.
Fechtner Syndrome A variation of Alport’s Syndrome It is a rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes. Results from a mutation in the MYH9 gene localized to 22q12-13, encodes the nonmuscle myosin heavy chain type IIA (MYHIIA), which is expressed in some blood cells (polynuclear cells, monocytes and platelets), in the cochlea and in the kidneys.
These molecular anomalies result in abnormal dimerization of the MYHIIA protein, which becomes unstable and coprecipitates with normal MYHIIA in the cytoplasm of leucocytes, thus forming cytoplasmic inclusion bodies. This abnormal dimerization also leads to a failure to properly organize the cytoskeleton in megakaryocytes, which triggers macrocytic thrombopenia
Fig 3. Thin section of buffycoat sample fromperipheral blood of a patientwith the Fechtnersyndrome. Many giantplatelets. some larger than thetwo lymphocytes (LI areapparent in thesampIe(original magnificationx 5.000; current magnificationx 4000)
Giant platelet from anotherpatient withFechtner syndrome. Althoughthe cell is large. therelative numbers of granules(G). mitochondria (M).and dense bodies (DB) is notunusual. Microtubules(MT) and elements of the densetubular system (DTS)of channels are present(original magnificationx26.500; current magnificationx21.730).