Medullary cystic kidney disease

The medullary cystic kidney disease type 1, also known as MCKD1 or ADMCKD1 (autosomal dominant medullary cystic kidney disease type 1 ) or referred autosomal dominant nephronophthisis, is a very rare serious genetic disorder of the kidneys. The disease is an autosomal dominant form of tubulointerstitial nephropathy. The MCKD1 leads to cystic kidney at the corticomedullary border of the kidneys. The disease breaks out only in adulthood and leads, on average, in the sixth decade of life for those affected end-stage renal failure.

Prevalence and Genetics

The medullary cystic kidney disease type 1 is a very rare genetic disease. The prevalence of type 1 and type 2 of MCKD together is about 1-9 per 1,000,000. By 2001, about 55 affected families were known around the world who are affected by either type 1 or type 2 MCKD.

The genetic defect is located on chromosome 1 p21 gene locus. A 2.1 Mb large interval in the range p21 was indeed identified as a potential area where the affected gene must be located, however, was a corresponding " MCKD1 gene" not yet been found.

Diagnosis

Patients with MCKD1 have as a result of tubular concentrating defect considerable salt loss, which can lead to severe dehydration and electrolyte imbalance. The loss of ability to concentrate the urine above 800 mOsm · kg - 1H2O is an early symptom of the disease. In the blood of persons affected azotemia (above-average high content of nitrogen-containing metabolites ), anemia can (anemia ), demonstrate hypokalemia (potassium deficiency) and metabolic acidosis ( acidosis ). The impaired renal function can be represented by renal scintigraphy. The diagnosis can be done by ultrasound ( " ultrasonic " ) or other imaging procedures such as magnetic resonance imaging.

Atrophic tubules and cystic advanced are in the majority at the corticomedullary border of the kidneys. The cysts usually go out from the distal convoluted tubule and the collecting ducts.

The disease occurs in redheads and blondes on preferred.

Demarcation to nephronophthisis

Until the 1970s it is assumed that nephronophthisis ( NPHP1 ) and the two medullärzystischen kidney disease (type 1 2) are the same disease. Both forms can not be distinguished histologically. The inheritance of nephronophthisis is an autosomal recessive trait. It leads, on average, in the 13th year of life end-stage renal failure. Because of the similarity of the disease is commonly known as NPH MCKD complex.

In the medullary cystic kidney disease type 1 terminal kidney failure at the age of 62 years on average occurs.

Therapy

There is no treatment known to date, which could stop the deterioration of renal function to the chronic renal failure inside. The treatment of MCKD1 therefore takes place purely symptomatic. A cure has only a kidney transplant. With the terminal kidney failure renal replacement therapy is needed. Either in the form of dialysis or by kidney transplantation.

In addition to the impaired renal function hyperuricemia and gout are still associated with the disease.

First description

The MCKD1 was first described in 1944 by GW Thorn and colleagues as " salt-losing nephritis " ( salt -losing nephritis ).