Concise clinical report. Late occurrence of cysts in autosomal dominant medullary cystic kidney disease

Neumann, H. P. H.; Zäuner, Ingeborg; Strahm, Brigitte; Bender, Bernhard U.; Schollmeyer, P.; Blum, Ulrike; Rohrbach, R; Hildebrandt, Friedhelm

doi:10.1093/ndt/12.6.1242

Cited by 29 publications

(24 citation statements)

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“…Moreover, these cysts, if present, frequently do not develop until late in the course of disease [1,9]. The renal biopsy is also frequently unhelpful, as it was initially in this case.…”

Section: Discussionmentioning

confidence: 74%

Clinico-pathologic findings in medullary cystic kidney disease type 2

et al. 2005

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Medullary cystic kidney disease type 2 is an uncommon autosomal dominant condition characterized by juvenile onset hyperuricemia, precocious gout and chronic renal failure progressing to end-stage renal disease in the 4th through 7th decades of life. A family suffering from this condition is described. The patient in the index case presented with renal insufficiency as a child. A renal biopsy revealed tubular atrophy, and immunohistochemical staining of the tissue for uromodulin (Tamm Horsfall protein) revealed dense deposits in renal tubular cells. Genetic testing revealed a single nucleotide mutation (c.899G>A) resulting in an exchange of a cysteine residue for tyrosine (C300Y). Medullary cystic kidney disease type 2 (also known as uromodulin-associated kidney disease) likely represents a form of endoplasmic reticulum storage disease, with deposition of the abnormal uromodulin protein in the endoplasmic reticulum, leading to tubular cell atrophy and death.

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“…Moreover, these cysts, if present, frequently do not develop until late in the course of disease [1,9]. The renal biopsy is also frequently unhelpful, as it was initially in this case.…”

Section: Discussionmentioning

confidence: 74%

Clinico-pathologic findings in medullary cystic kidney disease type 2

et al. 2005

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“…[9][10][11] Because MCD is transmitted in an autosomal-dominant mode and is never associated with retinal dystrophy, this diagnosis can be excluded in our patients.…”

Section: Discussionmentioning

confidence: 99%

Late-onset renal failure in Senior-Loken syndrome

Georges

Cosyns

Dahan

et al. 2000

American Journal of Kidney Diseases

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“…Linkage to PKD1 or its immediate neighbourhood was also excluded. Linkage to the NPH1 locus was excluded in another small MCD family recently described by Neumann et al [1997], by showing absence of the homozygous deletions that have been described in families with FJN [Konrad et al, 1996;Hildebrandt et al, 1997a].…”

Section: Discussionmentioning

confidence: 99%

Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1

et al. 1998

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We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people are known to be affected, but several younger relatives with normal renal function may remain undiagnosed because of the absence of precise clinical and laboratory diagnostic criteria. This nephropathy is associated with medullary renal cysts, hypertension, hyperuricemia, and gout. Several relatives have typical medullary cystic disease (MCD), while in the others the findings are compatible with this diagnosis. Due to the similarity of clinical and pathologic findings, earlier reports had suggested that MCD may be allelic to autosomal recessive familial juvenile nephronophthisis, which was mapped recently to chromosome band 2q13. Linkage analysis of the present family with a closely linked marker excluded linkage to the above locus. Linkage was also excluded to the PKD1 locus of adult polycystic kidney disease type 1, and up to 5 cM on either side, on chromosome 16. We suggest that because of the element of hyperuricemia and gout found in this family, although with reduced penetrance, it may represent a variant of autosomal dominant MCD of the adult type. This variability may be the result of allelic or locus heterogeneity. Molecular genetic approaches including linkage analysis on appropriate families will certainly assist in classifying such related genetically heterogeneous disorders.

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Concise clinical report. Late occurrence of cysts in autosomal dominant medullary cystic kidney disease

Cited by 29 publications

References 0 publications

Clinico-pathologic findings in medullary cystic kidney disease type 2

Clinico-pathologic findings in medullary cystic kidney disease type 2

Late-onset renal failure in Senior-Loken syndrome

Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1

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