Amyloid related Nephropathy – Top USMLE Diseases

Diabetes mellitus (DM) is a chronic metabolic disorder characterized by persistent hyperglycemia due to impaired insulin secretion (type 1 DM), insulin resistance (type 2 DM), or both (latent autoimmune diabetes in adults (LADA)). The goal of diabetes management is to prevent chronic serious and potentially disabling complications due to damage to various organs. Adequate long-term control of blood glucose is crucial in the prevention of complications. Macrovascular complications include heart disease, stroke, peripheral vascular disease, and CKD in various stages, including end-stage renal disease that requires dialysis. Microvascular disease can cause retinopathy, neuropathy, or symptomatic cardiac disease, which are not seen during stress testing or angiogram that are used to diagnose large vessel diseases.

Nephritic syndrome is a broad category of glomerular diseases characterized by glomerular hematuria, variable loss of renal function, and hypertension. These features are in contrast to those of nephrotic syndrome, which includes glomerular diseases characterized by severe proteinuria, although there is sometimes overlap of > 1 glomerular disease in the same individual. The clinical presentations of nephritic syndrome are highly varied, from asymptomatic with urinary abnormalities to life-threatening critical illness. Diagnosis is suggested by hematuria, mild-to-moderate proteinuria, and certain serologies (e.g., ANCA); kidney biopsy is necessary in most cases. Management varies as widely as the clinical presentations, from watchful waiting in mild cases to immunosuppression and plasmapheresis in aggressive disease.

The kidneys are a pair of bean-shaped organs located retroperitoneally against the posterior wall of the abdomen on either side of the spine. As part of the urinary tract, the kidneys are responsible for blood filtration and excretion of water-soluble waste in the urine. The kidneys also play a major role in homeostatic processes, including electrolyte concentration, blood pressure, and acid–base regulation. Grossly, they consist of an outer cortex and inner medulla. Microscopic functional units known as nephrons filter the blood through a structure called the glomerulus, and this filtrate is then modified and concentrated as it moves through a complex tubular system. The renal arteries supply the kidneys via a central opening, known as the renal hilum, on its medial side; large renal veins empty directly into the vena cava.

Amyloidosis is a disease caused by abnormal extracellular tissue deposition of fibrils composed of various misfolded low-molecular-weight protein subunits. These proteins are frequently byproducts of other pathological processes (e.g., multiple myeloma). These misfolded proteins can become deposited in different tissues, interfere with normal organ functions, and cause tissue-specific diseases (e.g., renal amyloidosis causes proteinuria). Diagnosis is established clinically and confirmed with tissue biopsy. Treatment should be directed toward the underlying cause and the reduction of amyloid deposition.

In the context of acute or chronic kidney failure, renal function may diminish to a point at which it is no longer able to adequately support life. When this happens, renal replacement therapy is indicated. Renal replacement therapy refers to dialysis and/or kidney transplantation. Dialysis is a procedure by which toxins and excess water are removed from the circulation. Hemodialysis and peritoneal dialysis (PD) are the two types of dialysis, and their primary difference is the location of the filtration process (external to the body in hemodialysis versus inside the body for PD).

Chronic kidney disease (CKD) is kidney impairment that lasts for ≥ 3 months, implying that it is irreversible. Hypertension and diabetes are the most common causes; however, there are a multitude of other etiologies. In the early to moderate stages, CKD is usually asymptomatic and is primarily diagnosed by laboratory abnormalities. Regardless of the etiology, progression of renal impairment is common and can ultimately lead to end-stage renal disease and the need for renal replacement therapy (e.g., transplantation or dialysis). The management of CKD includes treating the underlying etiology, aggressive risk factor modification, and addressing complications such as fluid overload and electrolyte imbalances.

The kidneys, solid organs located in the lower back, are extremely important in regulating homeostasis through their role in maintaining blood volume, electrolyte balance, acid–base equilibrium, blood-pressure regulation, and removal of metabolic waste from the blood. Evaluation of renal function and early detection of kidney dysfunction is of primary importance. Tests of renal function are useful in identifying the presence of renal disease, monitoring the response of kidneys to treatment, and determining the progression of renal disease.