An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: Report of a kindred

Salcedo, José R.

doi:10.1002/ajmg.1320190321

Cited by 37 publications

(15 citation statements)

References 23 publications

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“…Clinically acute, progressive disease manifested by protenuria and young age at onset might be comparable to the human childhood type of CFGN. Childhood CFGN is suspected to be an autosomal recessive disorder [7,15]; however, we were unable to investigate family history to ascertain whether this was implied in the present case. Except for family history, clinical and histopathological findings of the present dog were similar to CFGN-like glomerulosclerosis in three Newfoundland dog littermates [10].…”

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confidence: 80%

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Pathological Characterization of Collagenofibrotic Glomerulonephropathy in a Young Dog

Kobayashi

Yasuno

Ogihara

et al. 2009

The Journal of Veterinary Medical Science

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ABSTRACT. This report describes the morphological and immunohistochemical findings of a case of apparent collagenofibrotic glomerulonephropathy in a 7-month-old dog. Clinical examination showed moderate protenuria with elevated blood urea nitrogen and creatinine. Histopathological examination of the glomerular capillary walls and mesangial areas revealed diffuse and global accumulation of eosinophilic homogeneous or fine fibrous materials, which were immunohistochemically positive for type III collagen. On electron microscopy, the randomly crossed fibrils had transverse bands with a periodicity of approximately 60 nm. The clinical, histopathological, immunohistochemical and electron microscopic findings of the present dog were consistent with those of the human, childhood form of collagenofibrotic glomerulonephropathy.

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confidence: 80%

“…As the majority of reported adult patients have been in Japan, geographic or racial predisposition may be assumed. The other, more severe type begins during childhood and an etiology of autosomal recessive transmission has been suggested [7,15]. Most patients exhibit progressive protenuria, eventually leading to nephrotic syndrome.…”

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confidence: 99%

Pathological Characterization of Collagenofibrotic Glomerulonephropathy in a Young Dog

Kobayashi

Yasuno

Ogihara

et al. 2009

The Journal of Veterinary Medical Science

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“…As far as we know, a total of 29 cases have been reported (15 cases in Japan), suggesting a geographical or racial preponderance. The initial accumulation of reports suggested that this disease was adult-onset; however, Salcebo [24] reported a case involving a child in 1984. Recently, Gubler et al [22] have reported 10 cases in children and distinguished these from adult cases in regard to the clinical manifestations and family history.…”

Section: Discussionmentioning

confidence: 99%

Collagenofibrotic Glomerulonephropathy Associated with Immune Complex Deposits

Hisakawa¹,

Yasuoka²,

Nishiya³

et al. 1998

Am J Nephrol

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A 66-year-old Japanese male, who suffered from persistent proteinuria and leg edema, underwent renal biopsy. Light microscopy revealed marked narrowing of the glomerular capillary lumen with a diffuse accumulation of weakly PAS-positive material. By electron microscopy, abundant abnormal collagen fibers were observed predominantly in the subendothelial space and occasionally in the mesangial matrix. The fibers had a periodicity of about 60 nm and were immunoreactive for anti-type III collagen. Subendothelial electron-dense deposits were also found in some of the capillary walls. The serum level of procollagen III peptides was elevated and changed in parallel with the amount of proteinuria during the patient’s clinical course. On the basis of these findings, a diagnosis of the collagenofibrotic glomerulonephropathy was made. A review of the literature, including 29 similar or identical cases, failed to reveal the etiology and pathogenesis of this disease. We suggest that this disease may be divided into two different clinical subtypes, an adult-onset type and a pediatric type.

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“…14,18-20 They consist of focal or diffuse irregular thickening of the GBM containing patchy electron-lucent areas 18 and irregular deposition of type III collagen fibrils, especially in the lamina densa. 16,21 Few cases of nail-patella-like nephropathy with ultrastructural changes of the GBM similar to lesions observed in NPS and without nail and osseous anomalies have been published, [22][23][24] but the molecular bases of this phenotype have not been elucidated. Here, exome sequencing revealed a mutation in LMX1B segregating with disease in 3 of 74 families with isolated primary FSGS but no other known features of NPS.…”

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LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement

Boyer

Woerner

Yang

et al. 2013

Journal of the American Society of Nephrology

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LMX1B encodes a homeodomain-containing transcription factor that is essential during development. Mutations in LMX1B cause nail-patella syndrome, characterized by dysplasia of the patellae, nails, and elbows and FSGS with specific ultrastructural lesions of the glomerular basement membrane (GBM). By linkage analysis and exome sequencing, we unexpectedly identified an LMX1B mutation segregating with disease in a pedigree of five patients with autosomal dominant FSGS but without either extrarenal features or ultrastructural abnormalities of the GBM suggestive of nail-patella-like renal disease. Subsequently, we screened 73 additional unrelated families with FSGS and found mutations involving the same amino acid (R246) in 2 families. An LMX1B in silico homology model suggested that the mutated residue plays an important role in strengthening the interaction between the LMX1B homeodomain and DNA; both identified mutations would be expected to diminish such interactions. In summary, these results suggest that isolated FSGS could result from mutations in genes that are also involved in syndromic forms of FSGS. This highlights the need to include these genes in all diagnostic approaches to FSGS that involve next-generation sequencing.

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An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: Report of a kindred

Cited by 37 publications

References 23 publications

Pathological Characterization of Collagenofibrotic Glomerulonephropathy in a Young Dog

Pathological Characterization of Collagenofibrotic Glomerulonephropathy in a Young Dog

Collagenofibrotic Glomerulonephropathy Associated with Immune Complex Deposits

LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement

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