Bartter Syndrome
Bartter syndrome is a group of rare, inherited kidney tubule disorders. The problem happens in a part of the kidney called the thick ascending limb of the loop of Henle. In this segment, healthy ...
Rx Urology
Salt Wasting Kidney Tubule Disorder
A salt-wasting kidney tubule disorder means the tiny tubes in the kidneys cannot take salt back into the blood the way they should. Because salt pulls water, the body loses extra salt and water in ...
Adult Bartter Syndrome
Adult Bartter syndrome is a salt-wasting kidney tubule disorder that usually begins in late childhood, the teen years, or even in adult life. The kidney’s “loop of Henle” (a section of the kidney ...
Bartter Disease Type 3
Bartter disease type 3 is a rare, inherited kidney condition. The kidneys normally reabsorb salt (sodium chloride) from the urine back into the blood. In type 3, a chloride channel named ClC-Kb does ...
Infantile Polycystic Kidney Disease (ARPKD)
Infantile polycystic kidney disease—usually called autosomal recessive polycystic kidney disease (ARPKD)—is a genetic disease. A baby is born with it when they inherit two non-working copies of ...
Gallbladder Cancer – Causes, Symptoms & Treatment Options
Introduction Gallbladder cancer is a rare but serious disease that develops when cancerous (malignant) cells form in the tissues of the gallbladder a small organ located just beneath the liver. ...
Liver Cancer: Symptoms, Causes, Treatment, and Prognosis
Introduction Liver cancer is one of the most challenging cancers worldwide, known for its aggressive nature and often late diagnosis. The liver, a vital organ responsible for ...
Sarcotubular Myopathy
Sarcotubular myopathy is a rare, inherited muscle disease. It usually runs in families in an autosomal recessive way and is most often caused by harmful changes in a gene called TRIM32. The main ...
Autosomal Recessive Distal Renal Tubular Acidosis (AR-dRTA)
Autosomal recessive distal renal tubular acidosis is a rare, inherited kidney condition. It affects the last part of the kidney tubule called the distal tubule. In healthy kidneys, special cells in ...
Kidney Tubular Acidosis
Kidney tubular acidosis is a group of disorders where the kidney’s tubules can’t keep the body’s acid-base balance normal. You get a normal anion-gap (hyperchloremic) metabolic acidosis because the ...
Autosomal dominant Alport Syndrome (ADAS)
Autosomal dominant Alport syndrome (ADAS) is a genetic kidney condition caused by a single (heterozygous) disease-causing change in one copy of the COL4A3 or COL4A4 gene. These genes encode building ...
Goodpasture Syndrome (Anti-GBM Disease)
Goodpasture syndrome—also called anti-glomerular basement membrane (anti-GBM) disease—is a rare, fast-moving autoimmune disease. The immune system makes harmful antibodies that attack a specific ...
Anti-Glomerular Basement Membrane (anti-GBM) Disease
Anti-Glomerular Basement Membrane (anti-GBM) Disease is a rare autoimmune illness. Your immune system makes harmful antibodies that mistakenly attack a specific part of the filtering membrane in the ...
Creatine Deficiency Syndrome
Creatine deficiency syndrome is a group of rare, inherited brain energy disorders. In these conditions, the brain cannot make, move, or bring in enough creatine. Creatine is a small molecule that ...
Nephronophthisis
Nephronophthisis is an inherited kidney disease where the tiny tubules (pipes) inside the kidney slowly scar and form small cysts near the border between the cortex and medulla. Over years, the ...
Tubulointerstitial Nephritis (TIN)
Tubulointerstitial nephritis (TIN) is inflammation and injury that mainly affect the tubules (the tiny pipes that balance water, salt, acid–base, and waste) and the interstitium (the soft tissue ...
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