Medullary cystic kidney disease type 1

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q61.5 Medullary cyst kidney
ICD-10 online (WHO version 2019)

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

Prevalence and Genetics

Medullary cystic kidney disease type 1 is a very rare hereditary disease. The combined prevalence of type 1 and type 2 MCKD is around 1 to 9 per 1,000,000. By 2001, there were about 55 affected families worldwide known to be affected by either type 1 or type 2 MCKD.

The genetic defect is located on chromosome 1 gene locus p21. A 2.1 Mb interval in the p21 area was identified as a potential area in which the affected gene must be located, but a corresponding “MCKD1 gene” has not yet been found.

diagnosis

As a result of the tubular concentration defect, patients with MCKD1 have considerable salt losses, which can lead to severe dehydration and electrolyte depletion. The loss of the ability to concentrate the urine to over 800 mosm · kg −1 H 2 O is an early symptom of the disease. Azotemia (above-average high levels of nitrogen-containing metabolic products), anemia ( anemia ), hypokalaemia (potassium deficiency) and metabolic acidosis (hyperacidity) can be detected in the blood of those affected . The impaired kidney function can be visualized using kidney function scintigraphy . The diagnosis can be made by sonography (“ultrasound”) or other imaging methods such as magnetic resonance tomography .

Atrophic and cystically dilated tubules are mostly located at the corticomedullary border of the kidneys. The cysts mostly originate from the distal convolute and the collecting tubes.

The disease is preferred to redheads and blondes .

Differentiation from nephronophthisis

Until the 1970s it was assumed that nephronophthisis (NPHP1) and the two medullary cystic kidney diseases (types 1 + 2) are the same disease. The two forms can not be distinguished histologically . The inheritance of nephronophthisis is autosomal recessive . On average, it leads to terminal kidney failure as early as the age of 13. Because of the similarity of the diseases, one also speaks of the NPH-MCKD complex .

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

therapy

To date, there is no known therapy that could stop the decline in kidney performance and even chronic kidney failure. The treatment of MCKD1 is therefore purely symptomatic. The only cure is a kidney transplant . With terminal failure of the kidneys, renal replacement therapy becomes necessary. Either in the form of dialysis or by means of kidney transplantation.

In addition to impaired kidney function, hyperuricemia and gout are also associated with the disease.

Initial description

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

Individual evidence

  1. ↑ a b M. TF Wolf et al .: Telomeric refinement of the MCKD1 locus on chromosome 1q21. In: Kidney Int . 66, 2004, pp. 580-585. PMID 15253709
  2. ↑ orpha.net: Kidney disease, medullary cystic, autosomal dominant, with or without hyperuricemia, viewed on October 4, 2008.
  3. ↑ a b A. Amoroso: Autosomal Dominant Medullary Cystic Kidney Disease In: Orphanet encyclopedia June 2001.
  4. ↑ K. Christodoulou et al .: Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. In: Hum Mol Genet 7, 1998, pp. 905-911.
  5. ↑ H. Hecht et al .: Poor renal uptake of 99mtechnetiumdimercaptosuccinic acid and near normal 99mtechnetiummercaptoacetyltriglycine renogram in nephronophthisis. In: Pediatr Nephrol 10, 1996, pp. 167-170.
  6. ↑ RC Pabico et al: Renal tubular dysfunction in patients with cystic disease of the kidneys. In: Urology 51, 1998, pp. 156-160.
  7. ↑ a b c d F. Hildebrandt et al.: Nephronophthisis and related diseases. (PDF file; 83 kB) In: medgen 12, 2000, pp. 225–231.
  8. ^ EJ Rayfield, FD McDonald: Red and blond hair in renal medullary cystic disease. In: Arch. Intern. Med. 130, 1972, pp. 72-75. PMID 5035984
  9. ^ BC Chamberlin et al.: Juvenile nephronophthisis and medullary cystic disease. In: Mayo Clin. Proc. 52, 1977, pp. 485-491. PMID 881899 .
  10. ↑ R. Waldherr u. .a: The nephronophthisis complex: a clinicopathologic study in children. In: Virchows Arch Pathol Anat 394, 1982, pp. 235-254.
  11. ↑ GW Thorn et al: Renal failure simulating adrenocortical insufficiency. IN: New Eng. J. Med. 231, 1944, pp. 76-85.

literature

Web links