How is Alport Syndrome diagnosed?

Currently, diagnosis of Alport Syndrome relies on careful evaluation of the patient's clinical features, family history and results of tissue biopsies. Alport Syndrome produces unique changes in the walls of the blood vessels of the glomeruli that can be detected by electron microscopy of kidney biopsy material. Kidney biopsies can also be tested for the presence or absence of the type IV collagen alpha-3, alpha-4 and alpha-5 chains. This information is often very helpful in confirming a suspected diagnosis of Alport Syndrome. An alternative diagnostic procedure is skin biopsy. The type IV collagen alpha-5 chain is normally present in the skin. In most men with the X-linked form of Alport Syndrome the alpha-5 chain is completely missing from the skin.

Diabetic nephropathy, renal transplantation can live?

　　Kidney disease and diabetes are often related (diabets causes kidney disease) but a kidney transplant does not cure, or even affect, diabetes. In order to directly affect the diabetes, your mother needs a pancreas transplant. But I suspect that the need for kidneys is much more urgent.

　　The kidneys are responsible for removing excess water from your system AND certain "toxins" like Creatanine a Blood Uric Nitrogen (BUN). [These toxins are a natural product of digestion] If these toxins are not removed from the system, you will die.

　　Also, the kidneys produce a hormone that controls how many red blood cells you have. People with kidney failure are usually anemic (have too few red blood cells).

　　Too few red blood cells means that too little oxygen is getting into the body. This makes you tired. Excess creatanine and BUN also make you tired.
　　The kidneys do not affect insulin or the usage of sugar.

　　If you are diabetic, then your pancreas is not producing enough insulin. This can be handled by taking insulin injections. [Sorry -- that is the only way. Experimments with inhaled insulin have failed, and there are no insulin pills] Since insulin can be injected, a pancreas transplant is not usually considered.
　　But the only hope for kidney problem is either dialysis or transplant.

　　Dialysis is where the doctor attaches you to a special machine. The machine takes the blood out of your body, filters out the poisons, then puts the blood back in. Usually, you do this at special Dialysis Centers. It take about 4 hours on three days a week. Some people (but not all people) can do it at home.

　　Transplant is where they take a kidney from someone else, take out the sick kidneys, and put in a new one. There is a problem called REJECTION. Your body knows that it not YOUR kidney, and tries to kill it. So someone with a transplant needs special anti-rejection medications for the rest of their lives.

　　The donor kidney needs to be matched. Usually, the best bet is to get one kidney from a brother or sister. If that is not possible, then they use one from someone who has already died. In this case it takes about three years to find a new kidney. During that time you MUST be on dialysis.

　　After a kidney transplant, most patients live another 5-10 years. But the number of patients that survive after 10 years is only about 1 in 10.

　　Kidney transplant does NOT cure diabetes; it won't even make it better. But kidney failure is a more serious problem.

Diabetic nephropathy inherited?

　　Diabetes IS inheritable, but kidney disease is not generally thought of as an "inherited" disease.
　　Actually, diabetes, itself is not ALWAYS inherited. What is inherited is the TENDENCY to develop the disease, IF other environmental factors are there. This is why some people who are 10 pounds overweight get diabetes, but other people who are 100 pounds overweight do not. Being overweight is the environmental factor, the tendency towards diabetes is inherited.
　　So, no one in your family may actually have diabetes, but they (and you) might be "carriers". The diabetes didn't show up until some other factor "kicked it into gear".
　　Now, the kidney disease is a very common side effect of diabetes. Uncontrolled diabetes damages the capillaries, which are very important to kidney function. So many diabetics have severe kidney disease (like me), but almost all diabetics have SOME kidney damage.
　　But these two problems did not "damage your DNA". The tendency towards diabetes was already there -- just dormant in your parents, probably (how about your grandparents, great gransparents, or aunts and uncles?). The kidney disease is a side effect of diabetes, and is probably not inherited.

　　There is also a possibility to you developed diabetes completely on your own, and that you have no genetic tendency at all. This would be rare, but is not unheard of.

What clinical effects would high blood pressure have on kidneys of a bedridden client?

Hypertensive nephropathy (or "hypertensive nephrosclerosis", or "Hypertensive renal disease") is a medical condition referring to damage to the kidney due to chronic high blood pressure.
　　It should be distinguished from "renovascular hypertension" , which is a form of secondary hypertension.

　　In the kidneys, as a result of benign arterial hypertension, hyaline (pink, amorphous, homogeneous material) accumulates in the wall of small arteries and arterioles, producing the thickening of their walls and the narrowing of the lumens — hyaline arteriolosclerosis. Consequent ischemia will produce tubular atrophy,interstitial fibrosis, glomerular alterations (smaller glomeruli with different degrees of hyalinization - from mild to sclerosis of glomeruli) and periglomerular fibrosis. In advanced stages, renal failure will occur. Functional nephrons have dilated tubules, often with hyaline casts in the lumens.

What is hypertensive nephrosclerosis?

　　Hypertensive nephropathy (or "hypertensive nephrosclerosis", or "Hypertensive renal disease") is a medical condition referring to damage to the kidney due to chronic high blood pressure.
　　It should be distinguished from "renovascular hypertension" (I15.0), which is a form of secondary hypertension.

　　In the kidneys, as a result of benign arterial hypertension, hyaline (pink, amorphous, homogeneous material) accumulates in the wall of small arteries and arterioles, producing the thickening of their walls and the narrowing of the lumens - hyaline arteriolosclerosis. Consequent ischemia will produce tubular atrophy,interstitial fibrosis, glomerular alterations (smaller glomeruli with different degrees of hyalinization - from mild to sclerosis of glomeruli) and periglomerular fibrosis. In advanced stages, renal failure will occur. Functional nephrons have dilated tubules, often with hyaline casts in the lumens.

　　The diagnosis of hypertensive nephrosclerosis is dependent on the exclusion of other primary renal diseases. A careful past history, family history, search for signs for target organ damage, such as left ventricular hypertrophy and hypertensive retinal changes, careful urine microscopy, measurement of 24-h urinary protein and performance of renal ultrasound should establish the diagnosis, with additional tests for glomerulonephritic or vasculitic diseases if indicated.