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> Alport syndrome Diagnosis

Early and accurate diagnosis is important for early intervention in Alport syndrome, regardless of gender.

“It is just as important to diagnose Alport syndrome in girls as in boys,” according to Dr. Clifford Kashtan. “Alport families know that affected boys will someday develop kidney failure, but they often believe that affected girls have no risk of kidney failure. Women with Alport syndrome may think that they are only carriers of a mutation and have no need for regular monitoring. The fact is that over 95% of women with Alport syndrome have blood in the urine, so they have the disease. Although the risk of kidney failure is much lower in women with Alport syndrome compared to men, there is a significant risk. About 20-30% of women with the X-linked form of Alport syndrome reach end-stage kidney disease by the age of 60. Women with Alport syndrome can also develop deafness.”

The diagnosis of Alport syndrome is performed using some or all of these methods:

This diagram illustrates the missing Col4a5 tissue (green) in a biopsy sample. Left is normal, right is an X-linked Alport kidney. (Cosmo Bio Company, LTD.)

Kidney Biopsy

Alport syndrome produces unique changes in the walls of the blood vessels of the glomeruli (kidney structures) that can be detected by performing electron microscopy on the kidney biopsy material. A kidney biopsy is usually performed as an outpatient procedure at a hospital and requires minor surgery to obtain a sample of kidney tissue. Kidney biopsies can also be tested for the presence or absence of the type IV collagen alpha-3, alpha-4 and alpha-5 chains (COL4A3, COL4A4, and COL4A5 genes). This information is helpful in confirming a suspected diagnosis of Alport syndrome and can usually determine the genetic form of the disease.

See Diagnostic Labs for a listing of labs that perform analysis of kidney biopsies for Alport syndrome.

A skin biopsy can be performed when (X-linked Alport syndrome) is suspected. The type IV collagen alpha-5 chain (COL4A5) is normally present in the skin and a biopsy of the skin can be tested for the presence or absence of this collagen chain. Approximately 80% of male patients and 60% of female patients with X-linked Alport syndrome will show abnormal staining for COL4A5 in the skin biopsy. This approach is especially useful if a kidney biopsy poses an excessive risk, such as in patients with kidney failure.

Because, the alpha-3 and alpha-4 chains are not present in the skin this test cannot be used to diagnose or .

See Diagnostic Labs for a listing of labs that perform analysis of skin biopsies for Alport syndrome.

While Trump didn't name the four, top contenders for the role have included federal appeals judges Brett Kavanaugh, Raymond Kethledge, Amy Coney Barrett and Thomas Hardiman. The White House has been preparing information materials on all four, who were part of a longer list of 25 names vetted by conservative groups.

Trump administration tackles SCOTUS replacement
Trump interviewing potential candidates for Supreme Court

Trump has not yet communicated a final choice, said a person familiar with his thinking who was not authorized to speak publicly. Trump has spent the weekend discussing his options with allies and will announce his pick at 9 p.m. EDT Monday from the White House.

Savoring the suspense, Trump has sought to keep people guessing in the final hours, hoping to replicate his successful announcement of Justice Neil Gorsuch last year. The White House hoped to keep the details under wraps until he rolls out his pick from the East Room.

In his conversations over the weekend, Trump expressed renewed interest in Hardiman — the runner-up when Trump nominated Gorsuch, said two people with knowledge of his thinking who were not authorized to speak publicly. But Trump's final decision remained far from clear, and the president wants to keep the guessing game going.

Trump has teased details of his process in recent days, saying Thursday that he was down to four people and "of the four people, I have it down to three or two." On Saturday, he tweeted that a "Big decision" was coming soon.

Republican Sens. Lindsey Graham of South Carolina and Roy Blunt of Missouri said Sunday that they believe any of the top four contenders could get confirmed by the GOP-majority Senate.

"I think we can confirm any of the four names being mentioned," Blunt said on NBC's "Meet the Press." ''They're good judges. I think they'd be fine justices of the Supreme Court. I do think the president has to think about who is the easiest to get confirmed here. And I expect we will do that on sort of a normal timetable, a couple of months."

The president and White House officials involved in the process have fielded calls and messages and have been on the receiving end of public pleas and op-eds for or against specific candidates since Kennedy announced on June 27 that he would retire this summer.

Some conservatives have expressed concerns about Kavanaugh — a longtime judge and former clerk for Kennedy — questioning his commitment to social issues like abortion and noting his time serving under President George W. Bush as evidence he is a more establishment choice. But his supporters cite his experience and wide range of legal opinions. Barrett has excited social conservatives since she was questioned about her Roman Catholic faith in her nomination hearings last year, but her brief time on the bench has raised questions.

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