Medullary cystic kidney disease

Medullary cystic diseasemedullary cystic kidney disease-2Medullary cysts
Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease.wikipedia
32 Related Articles

Gout

gouty arthritispodagragout attack
Some individuals with this disease develop gout, which is a condition in which patients develop severe pain and swelling in the big toe or another joint such as the knee.
The rare genetic disorders familial juvenile hyperuricemic nephropathy, medullary cystic kidney disease, phosphoribosylpyrophosphate synthetase superactivity and hypoxanthine-guanine phosphoribosyltransferase deficiency as seen in Lesch-Nyhan syndrome, are complicated by gout.

Nephronophthisis

juvenile nephronophthis
* Nephronophthisis
It is classified as a medullary cystic kidney disease.

Tamm–Horsfall protein

Tamm-Horsfall proteinUMODuromodulin
The genes produce the protein mucin-1 and uromodulin, respectively. Medullary cystic kidney disease type 2 is due to mutations in a gene named UMOD on chromosome 16 that encodes a protein called uromodulin This disease is also autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant.
Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN).

Dominance (genetics)

autosomal recessiverecessiveautosomal dominant
Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease. This disease is autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant. Medullary cystic kidney disease type 2 is due to mutations in a gene named UMOD on chromosome 16 that encodes a protein called uromodulin This disease is also autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant.

Kidney

kidneysrenalkidney disorder
Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease.

Chronic kidney disease

chronic renal failureend-stage renal diseasechronic kidney failure
Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease.

Cyst

cystscysticencyst
Because the presence of cysts is neither an early nor a typical diagnostic feature of the disease, and because at least 4 different gene mutations may give rise to the condition, the name autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, to be appended with the underlying genetic variant for a particular individual.

Polycystic kidney disease

polycystic kidneypolycystic kidneysAutosomal dominant polycystic kidney disease
Importantly, if cysts are found in the medullary collecting ducts they can result in a shrunken kidney, unlike that of polycystic kidney disease.

Renin

HyperreninemiaRENblood plasma renin
A third form of the disease occurs due to mutations in the gene encoding renin (ADTKD-REN), and has formerly been known as familial juvenile hyperuricemic nephropathy type 2.

MUC1

Epithelial membrane antigenEMAMUC-1
Normal individuals have two copies of the MUC1 and UMOD genes.

Ascending limb of loop of Henle

thick ascending limbthin ascending limbthick ascending limb of loop of Henle
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.

Distal convoluted tubule

distal tubuledistal convoluted tubulesdistal tubules
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.

Mutation

mutationsgenetic mutationmutated
Mucin-1 kidney disease (MKD) is due to a mutation within the MUC1 gene, which is located on chromosome 1.

Chromosome 1

1first chromosomehuman chromosome 1
Mucin-1 kidney disease (MKD) is due to a mutation within the MUC1 gene, which is located on chromosome 1.

Dialysis

kidney dialysisrenal dialysisdialysis machine
This disease is autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant. Medullary cystic kidney disease type 2 is due to mutations in a gene named UMOD on chromosome 16 that encodes a protein called uromodulin This disease is also autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant.

Kidney transplantation

kidney transplantrenal transplantationrenal transplant
This disease is autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant. Medullary cystic kidney disease type 2 is due to mutations in a gene named UMOD on chromosome 16 that encodes a protein called uromodulin This disease is also autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant.

Loop of Henle

loops of HenleHenle’s loopnephron loop
Tubulointerstitial is used because the problems that occur in this disease result as a consequence of atrophy, of tubules, of the loop of Henle and fibrosis of the medullary interstitium.

Renal medulla

renal papillamedullarenal pyramid
Tubulointerstitial is used because the problems that occur in this disease result as a consequence of atrophy, of tubules, of the loop of Henle and fibrosis of the medullary interstitium.

Gene

genesnumber of genesgene sequence
Medullary cystic kidney disease type 2 is due to mutations in a gene named UMOD on chromosome 16 that encodes a protein called uromodulin This disease is also autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant.

Chromosome 16

16chromosomes, human, pair 1616q13
Medullary cystic kidney disease type 2 is due to mutations in a gene named UMOD on chromosome 16 that encodes a protein called uromodulin This disease is also autosomal dominant, meaning that it is characterized by a 50% chance of inheritance and slowly progressive chronic kidney disease that leads to the need for dialysis or a kidney transplant.

Creatinine

serum creatininenormal kidney functioncreatinin

Medical ultrasound

ultrasoundultrasonographymedical ultrasonography

Erythropoietin

EPOrecombinant EPOerythropoetin
However, management for the symptoms can be dealt with as follows: erythropoietin is used to treat anemia, and growth hormone is used when growth becomes an issue.