Proximal convoluted tubule Normal individuals have two copies of the MUC1 and UMOD genes. The genes produce the protein mucin-1 and uromodulin, respectively. These proteins are expressed only in certain cells in the kidney – the thick ascending limb of Henle and distal convoluted tubule – both parts of the kidney tubule. The protein coats the surface of the tubule and protects the tubule.In MKD, individuals have one normal and one abnormal MUC1 gene. In uromodulin kidney<unk>  (UKD), individuals have one normal and one abnormal UMOD gene. The abnormal (mutated) gene produces a misfolded protein product that deposits within cells of the renal tubules (in a part of the cell called the endoplasmic reticulum). The abnormal protein builds up in the cell and causes it slowly to die, leading to an ultimate loss of the kidney's function manifesting as a<unk>  state. MKD1/Mucin-1 kidney<unk>  1. Glomerulus, 2. Efferent arteriole, 3. Bowman's capsule, 4. Proximal convoluted tubule, 5. Cortical collecting duct, 6. Distal convoluted tubule, 7. Loop of Henle, 8. Papillary duct, 9. Peritubular capillaries, 10. Arcuate vein, 11. Arcuate artery, 12. Afferent arteriole, 13. Juxtaglomerular apparatus. Mucin-1 kidney<unk>  (MKD) is due to a mutation within the MUC1 gene, which is located on chromosome 1. The mucin-1 protein is involved in the creation of a mucus-like substance that coats the surface of different small tubules in the body, it is expressed on distal tubular cells in the kidney. Mucin-1 kidney<unk>  (MKD) is caused by a mutation in the MUC1 gene. This mutation alters the genetic sequence in the MUC1 gene, resulting in a new, mutated protein, furthermore, The<unk>  is extremely rare and its prevalence is unknown. This<unk>  is autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney<unk>  that leads to the need for dialysis or a kidney transplant. People with a mutation in this gene can have a variable rate of loss of kidney function, with some individuals going on dialysis in their thirties while others may not go on dialysis until later in life. Earlier on the condition was called<unk>  type 1. It was named this because some people with the<unk>  had cysts (small holes) in the middle (medulla) of their kidneys. It has since then been found that these cysts are uncommon and are not found in the majority of the patients with MUC1 mutations. For this reason, this name has been abandoned, scientists (part of the Kidney Dialysis Initiatives and Global Outcomes group) specializing in this<unk>  came together formally and created an official name for this and similar conditions. This condition was designated as Autosomal Dominant Tubulointerstitial Kidney<unk>  (ADTKD). In autosomal dominant inheritance only one parent need be affected to pass down the disorder. Tubulointerstitial is used because the problems that occur in this<unk>  result as a consequence of atrophy, of tubules, of the loop of Henle and fibrosis of the medullary interstitium. MKD2/Uromodulin kidney<unk>  Chromosome 16<unk>  type 2 is due to mutations in a gene named UMOD on chromosome 16 that encodes a protein called uromodulin This<unk>  is also autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney<unk>  that leads to the need for dialysis or a kidney transplant. People with this<unk>  suffer from gout relatively early in life. Mutations in this gene can lead to a variable rate of loss of kidney function. In MKD2 inheritance, just as MKD1, autosomal dominant indicates that 50% of children of an affected person will inherit the<unk> . "Tubulointerstitial" is used because the problems that occur in this<unk>  happen in the compartment of the kidney known as the tubulointerstitium, a shorter name of the<unk>  is used by most individuals - uromodulin kidney<unk>  (UKD).
Medullary cystic kidney disease
Glomerulocystic kidney disease
Medullary sponge kidney
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney disease
Juvenile nephronophthisis
Cystic kidney disease
Page kidney