Diffuse mesangial sclerosis in a fetus

Spear, Gerald S.; Steinhaus, Kathryn A.; Quddusi, Ayesha

doi:10.1007/bf00878386

Cited by 9 publications

(17 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, we found only one sibship reported as GMS that we considered likely to have had CRB2-related syndrome because of hydrocephalus with gray matter heterotopias, renal findings consistent with Finnish nephrosis and a twentyfold increased AFP in one of the pregnancies. 13 Our report increases the number of reported CRB2 variants to 14 (Table 3); the variants frequently involved cysteine residues that would alter disulfide bridge formation or charged amino acids important for protein domain interactions (Figure 2). Only two frameshift variants have been noted and these occurred in a patient with CRB2-related syndrome and a child with SRNS.…”

Section: Discussionmentioning

confidence: 75%

“…[12][13][14][15][16] We also reviewed all cases reported in PubMed under the term 'Galloway-Mowat syndrome', since this syndrome involves the combination of nephrotic syndrome and cerebral malformations. 17 Searches were also performed using the terms 'elevated AFP' and 'hydrocephalus' or 'nephrosis'.…”

Section: Literature Reviewmentioning

confidence: 99%

“…We ascertained 15 patients from the medical literature with possible CRB2-related syndrome based on the clinical descriptions ( Table 2). [12][13][14][15][16] These cases have not undergone CRB2 sequencing and thus were not combined with CRB2 variant-positive cases due to possible ascertainment bias and lack of diagnostic certainty. Ventricular dilatation/hydrocephalus was present in 14/15 and was more rarely accompanied by aqueductal stenosis, gray matter heterotopias, splitting of the central canal of the spinal cord and hyperplasia of the choroid plexus.…”

Section: Patient Summaries and Literature Reviewmentioning

confidence: 99%

See 2 more Smart Citations

Expansion of phenotype and genotypic data in CRB2-related syndrome

et al. 2016

View full text Add to dashboard Cite

Sequence variants in CRB2 cause a syndrome with greatly elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish congenital nephrosis. All reported patients have been homozygotes or compound heterozygotes for sequence variants in the Crumbs, Drosophila, Homolog of, 2 (CRB2) genes. Variants affecting CRB2 function have also been identified in four families with steroid resistant nephrotic syndrome, but without any other known systemic findings. We ascertained five, previously unreported individuals with biallelic variants in CRB2 that were predicted to affect function. We compiled the clinical features of reported cases and reviewed available literature for cases with features suggestive of CRB2-related syndrome in order to better understand the phenotypic and genotypic manifestations. Phenotypic analyses showed that ventriculomegaly was a common clinical manifestation (9/11 confirmed cases), in contrast to the original reports, in which patients were ascertained due to renal disease. Two children had minor eye findings and one was diagnosed with a B-cell lymphoma. Further genetic analysis identified one family with two affected siblings who were both heterozygous for a variant in NPHS2 predicted to affect function and separate families with sequence variants in NPHS4 and BBS7 in addition to the CRB2 variants. Our report expands the clinical phenotype of CRB2-related syndrome and establishes ventriculomegaly and hydrocephalus as frequent manifestations. We found additional sequence variants in genes involved in kidney development and ciliopathies in patients with CRB2-related syndrome, suggesting that these variants may modify the phenotype.

show abstract

Section: Discussionmentioning

confidence: 75%

Section: Literature Reviewmentioning

confidence: 99%

Section: Patient Summaries and Literature Reviewmentioning

confidence: 99%

See 1 more Smart Citation

Expansion of phenotype and genotypic data in CRB2-related syndrome

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Diffuse mesangial sclerosis (DMS) is a rare but fasci nating type of congenital and infantile nephrotic syn drome (NS) [1][2][3]. Although the etiopathogenesis of the isolated DMS form is controversial hereditary factors are implicated.…”

Section: Introductionmentioning

confidence: 99%

“…Although the etiopathogenesis of the isolated DMS form is controversial hereditary factors are implicated. This nephropathy has quite characteristic clinical features such as a resistant nephrotic syndrome with onset in infancy or in the first 3 months of life accompanied by a progressive renal insufficiency with a fatal outcome [1][2][3]. DMS of the glomeruli is the charac teristic morphological feature which is referred to by its name [1][2][3], However immunofluorescence and electronmicroscopical (EM) studies are available in few cases pre senting variable findings [4][5][6][7][8][9], In this study clinicopathological findings of 4 new cases of DMS of 35 cases of infantile nephrotic syndrome tissue diagnosed in our department are presented [9],…”

Section: Introductionmentioning

confidence: 99%

Diffuse Mesangial Sclerosis: A Unique Type of Congenital and Infantile Nephrotic Syndrome

Özen

Tinaztepe²

1996

Nephron

View full text Add to dashboard Cite

Clinical and pathological findings in four Turkish infants with isolated diffuse mesangial sclerosis (DMS) are presented. All the patients were offsprings of consanguineous marriages and two had similarly affected sibs indicating an autosomal recessive inheritance. The onset of the nephrotic syndrome was at 7, 17, 11 and 3 months of age. They all died in a state of renal failure complicated by infections at the ages of 11 33,13 and 5 months. DMS was diagnosed at postmortem examination in all. Fluorescence-microscopical studies in all and an electron-microscopical study in one revealed nonspecific findings. The shorter survival in three of the cases was thought to be due to intervening infections. The variation of the clinical features along with the fluorescence and electron-microscopical findings are consistent with the previously mentioned heterogeneous aspect of DMS.

show abstract

Nephrotic syndrome in the 1st year of life

Habib

1993

Pediatr Nephrol

100

View full text Add to dashboard Cite

Among the various primary conditions which may be associated with a nephrotic syndrome at birth or within the 1st year of life, the best known is the congenital nephrotic syndrome of finnish type (CNF) characterized by irregular pseudocystic dilatation of proximal tubules. This disease, very frequent in Finland, is often familial with an autosomal recessive mode of inheritance. Patients are steroid resistant, but the cause of death is usually not uraemia but infection or severe diarrhoea with electrolyte imbalance. The second condition is idiopathic nephrosis including minimal change disease, diffuse mesangial proliferation and focal segmental glomerular sclerosis. As opposed to CNF, infants with "early onset nephrosis" may respond to steroid therapy as older children do and may even recover. However, there are no histopathological criteria which allow the certain differentiation of idiopathic nephrosis from CNF. The third condition is diffuse mesangial sclerosis (DMS), a clinicopathological entity which can occur as an isolated finding or be associated with male pseudohermaphroditism and/or Wilms' tumour (Drash syndrome). From a morphological point of view, DMS is easy to differentiate from CNF because of the characteristic pattern of involvement of the glomeruli. From a clinical point of view, the nephropathy, almost always characterized by a nephrotic syndrome, has two distinct features: it is most often diagnosed in the first 2 years of life and it progresses rapidly to end-stage renal failure, which usually occurs before the age of 3 years. The clinical findings in 36 patients with DMS are presented. The nephropathy was isolated in 22 infants and associated with male pseudohermaphroditism and/or Wilms' tumour in 14.(ABSTRACT TRUNCATED AT 250 WORDS)

show abstract

Diffuse mesangial sclerosis in a fetus

Cited by 9 publications

References 0 publications

Expansion of phenotype and genotypic data in CRB2-related syndrome

Expansion of phenotype and genotypic data in CRB2-related syndrome

Diffuse Mesangial Sclerosis: A Unique Type of Congenital and Infantile Nephrotic Syndrome

Nephrotic syndrome in the 1st year of life

Contact Info

Product

Resources

About