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Nephronophthisis - medullary cystic disease

MedGen UID:
609112
•Concept ID:
C0431716
•
Congenital Abnormality; Disease or Syndrome
SNOMED CT: Nephronophthisis - medullary cystic disease (253882001)

Professional guidelines

PubMed

Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.
Zerres K, Völpel MC, Weiss H
Hum Genet 1984;68(2):104-35. doi: 10.1007/BF00279301. PMID: 6500563

Recent clinical studies

Etiology

Mouse models of polycystic kidney disease.
Wilson PD
Curr Top Dev Biol 2008;84:311-50. doi: 10.1016/S0070-2153(08)00606-6. PMID: 19186247
Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus.
Scolari F, Ghiggeri GM, Casari G, Amoroso A, Puzzer D, Caridi GL, Valzorio B, Tardanico R, Vizzardi V, Savoldi S, Viola BF, Bossini N, Prati E, Gusmano R, Maiorca R
Nephrol Dial Transplant 1998 Oct;13(10):2536-46. doi: 10.1093/ndt/13.10.2536. PMID: 9794556

Diagnosis

Mouse models of polycystic kidney disease.
Wilson PD
Curr Top Dev Biol 2008;84:311-50. doi: 10.1016/S0070-2153(08)00606-6. PMID: 19186247
Nephronophthisis-medullary cystic disease: clinical and genetic aspects.
Gusmano R, Ghiggeri GM, Caridi G
J Nephrol 1998 Sep-Oct;11(5):224-8. PMID: 9831234
Juvenile nephronophthisis-medullary cystic disease complex: a family study.
Tsai JD, Lin SP, Huang FY, Hsu HC, Tsai TC
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1997 Mar-Apr;38(2):116-20. PMID: 9151464
Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.
Zerres K, Völpel MC, Weiss H
Hum Genet 1984;68(2):104-35. doi: 10.1007/BF00279301. PMID: 6500563
Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings.
Zollinger HU, Mihatsch MJ, Edefonti A, Gaboardi F, Imbasciati E, Lennert T
Helv Paediatr Acta 1980 Dec;35(6):509-30. PMID: 7009503

Prognosis

A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis.
Hirabayashi S, Shigematsu H, Iai M, Takashima S
Brain Dev 2000 Jan;22(1):24-30. doi: 10.1016/s0387-7604(99)00085-6. PMID: 10761830
Nephronophthisis-medullary cystic disease: clinical and genetic aspects.
Gusmano R, Ghiggeri GM, Caridi G
J Nephrol 1998 Sep-Oct;11(5):224-8. PMID: 9831234
Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus.
Scolari F, Ghiggeri GM, Casari G, Amoroso A, Puzzer D, Caridi GL, Valzorio B, Tardanico R, Vizzardi V, Savoldi S, Viola BF, Bossini N, Prati E, Gusmano R, Maiorca R
Nephrol Dial Transplant 1998 Oct;13(10):2536-46. doi: 10.1093/ndt/13.10.2536. PMID: 9794556

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