Hereditary Interstitial Nephritis without Basement Membrane Changes

Levy, N; Meyers, A M; Margolius, L; Verhaart, S.; Wadee, W. A.

doi:10.1159/000188512

Cited by 6 publications

(8 citation statements)

References 4 publications

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“…In other cases, a diagnosis of unspeci®ed familial interstitial nephritis could be possible, mainly if cysts are not found on imaging or biopsy [Coles et al, 1976;Richmond et al, 1981;Levy et al, 1995]. In our families, no medullary cysts have been identi®ed even at late stages of renal disease, contrary to previous descriptions [Garel et al, 1984].…”

Section: Discussioncontrasting

confidence: 66%

“…Most of the cases of hereditary non-cystic nephropathy are associated with Alport syndrome [Barker et al, 1990]. However, other cases of hereditary nephritis exist which do not share any clinical similarities with Alport syndrome [Levy et al, 1995]. These cases, mostly of autosomal dominant inheritance, are mainly represented by medullary cystic kidney disease (ADMCKD) [Goldman et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

“…Other families with an autosomal dominant form of``familial interstitial nephritis'' have been described in the past. However, the diagnosis of these families differs from ADMCKD in clinical presentation and course [Richmond et al, 1981;Levy et al, 1995]. Patients are hypertensive and have a mild renal impairment on presentation, without subsequent development of polyuria.…”

Section: Introductionmentioning

confidence: 99%

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Clinical and genetic characterization of an autosomal dominant nephropathy

et al. 2001

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Autosomal dominant familial nephropathies with adult onset, no macroscopic cysts, and progressive deterioration include medullary cystic disease (ADMCKD) as well as other less specific entities. We studied a kindred of Jewish ancestry in which 15 members (both male and female) have suffered from chronic renal failure. The first evidence of renal involvement was observed between 18 and 38 years. It included hypertension followed by progressive renal insufficiency. No polyuria, anemia, gout, hematuria, nor proteinuria were seen. An average of 4.5 years elapsed from diagnosis to end-stage renal disease. Renal pathology at early stages of the disease showed extensive tubulointerstitial fibrosis and global glomerulosclerosis. Linkage analysis was performed at the two known loci of ADMCKD, on Chromosomes 1 and 16. Linkage to the chromosome 16 locus was excluded. However, linkage to the chromosome 1q21 locus of ADMCKD was established with a maximum two-point LOD score of 3.82 to D1S394. The disease interval could be narrowed to about 9 cM/7.4 Mb between D1S1156 and D1S2635. Multiple-point linkage analysis revealed a maximum LOD of 4.21, with a broad peak from markers D1S2858 and D1S2624. This report establishes linkage between a familial nephropathy characterized by hypertension and progressive renal failure to the locus described for ADMCKD, a disease classically associated with macroscopic corticomedullary cysts, salt-losing tubulointerstitial nephropathy, and anemia. This finding broadens the clinical spectrum of ADMCKD positioned on chromosome 1q21 locus.

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Section: Discussioncontrasting

confidence: 66%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical and genetic characterization of an autosomal dominant nephropathy

et al. 2001

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“…Despite these early reports, the disease remained a difficult diagnosis to make and some later reports propagated the confusion and uncertainty. To a large extent this was due to the variable phenotype which suggested that the MCD/FJN complex represented a heterogeneous group of disorders with similar functional and morphologic renal alterations [Goldman et al, 1966;Gardner, 1971;Wrigley et al, 1973;Swenson et al, 1974;Giangiacomo et al, 1975;Chamberlin et al, 1977;Bernstein and Gardner, 1983;Kleinknecht, 1990 and references therein; Levy et al, 1995].…”

Section: Introductionmentioning

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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“…Oda et al 14 reported the possible participation of the Cw1 locus in autosomal dominant nephronophthisis-medullary cystic disease complex. Similarly, Levy et al 15 reported an HLA association between affected and unaffected members with familial interstitial nephritis. They suggested a link between the disorder and HLA DQW7, which is located on chromosome 6.…”

Section: Discussionmentioning

confidence: 88%

Medullary cystic disease and tubular basement membrane changes: clinicopathological characteristics of four patients

Tomiyoshi¹,

Sakemi²,

Mine³

et al. 2001

Clinical and Experimental Nephrology

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We describe herein the clinicopathological characteristics of four members of a family in which about half of the generation was affected by chronic renal failure after middle age. The inheritance was considered to be an autosomal dominant pattern. Clinically, neither sensorineural deafness nor ocular abnormalities were evident. In addition, there was neither hypokalemia nor hypercalcemia causing deterioration of renal function. Radiological examination revealed no cystic formation in the kidneys in any patients, although in two of them the examination was performed at the time of endstage renal disease. Histological examination showed chronic tubulo-interstitial damage with periglomerular fibrosis. On electron microscopy, characteristic but nonspecific thickening and lamination of tubular basement membrane were noted in all patients, while glomerular basement membrane was unremarkable in all patients. These findings suggest that our patients had medullary cystic disease. Demonstration of lamination and thickening of the tubular basement membrane by electron microscopy may be useful for the diagnosis of medullary cystic disease with undetectable cyst formation.

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Hereditary Interstitial Nephritis without Basement Membrane Changes

Cited by 6 publications

References 4 publications

Clinical and genetic characterization of an autosomal dominant nephropathy

Clinical and genetic characterization of an autosomal dominant nephropathy

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

Medullary cystic disease and tubular basement membrane changes: clinicopathological characteristics of four patients

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