NPH-MCKD complex

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The NPH-MCKD complex ( nephronophthisis-medullary cystic kidney disease ), also known as the NPH / ADMCKD complex , is a group of genetically determined diseases of the kidney that lead to a cystic kidney .

The common clinical picture of the diseases is the formation of cystic kidneys at the cortical-medullary border (corticomedullary border). All diseases of the NPH-MCKD complex lead to terminal kidney failure (ultimate kidney failure) in certain age ranges, depending on the affected gene .

The following diseases are included in the NPH-MCKD complex:

Inheritance illness Chromosome / gene locus gene protein terminal kidney failure
(age in years)
autosomal - recessive Juvenile nephronophthisis 2q13 NPHP1 Nephrocystine-1 13
autosomal recessive Infantile nephronophthisis 9q22-q31 NPHP2 Inverse <1
autosomal recessive Adolescent nephronophthisis 3q22.1 NPHP3 Nephrocystine-3 19th
autosomal recessive Nephronophthisis type 4 1p36.22 NPHP4 Nephroretinin 21st
autosomal recessive Nephronophthisis type 5 3q21.1 IQCB1, NPHP5 Nephrocystine-5 13
autosomal recessive Nephronophthisis type 6 12q21.33 CEP290, NPHP6 Nephrocystine-6
autosomal recessive Nephronophthisis type 7 16p13.3 GLIS2 Zinc finger protein GLIS2  
autosomal dominant Medullary cystic kidney disease type 1 1q21 MCKD-1 Phenotype 62
autosomal dominant Medullary cystic kidney disease type 2 16p12.3 UMOD Uromodulin 32

Individual evidence

  1. ↑ F. Hildebrandt et al.: Nephronophthisis and related diseases. (PDF; 85 kB) In: medgen 12, 2000, pp. 225-231.
  2. ↑ M. Attanasio et al .: Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. In: Nature Genet 39, 2007, pp. 1018-1024. PMID 17618285

literature