Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on two Chinese female infants with multiple congenital anomalies: microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly. In the first patient, focal glomerulosclerosis was diagnosed histologically by percutaneous renal biopsy due to proteinuria with hematuria. Congenital hypothyroidism presenting with markedly low T3 and T4 was also noted. She died at age 5 months. The second patient had a very similar condition but less severe brain and kidney malformations. A variant of Galloway-Mowat syndrome is suspected.
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PMID:Galloway-Mowat syndrome in Taiwan. 853 26

A case of diffuse mesangial sclerosis (DMS) associated with a number of undescribed congenital anomalies is reported. The occurrence of additional anomalies, especially ocular anomalies, is a common finding in DMS. However, neither megalocornea, Dandy-Walker malformation, postaxial hexadactyly, rocker-bottom feet, nor atrial septal defect, as observed in our patient, has been reported previously in association with DMS. This case might be considered an atypical manifestation of the Galloway-Mowat syndrome. In contrast to most cases of DMS, the patient revealed intrauterine proteinuria as the placenta was enlarged to 31% of birth weight. This case demonstrates that the large placenta, >25% of birth weight, is not only pathognomonic of the congenital nephrotic syndrome of the Finnish type but can also occur in DMS.
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PMID:Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement. 989 34

Galloway-Mowat syndrome is an autosomal recessive disorder characterized by early onset nephrotic syndrome and central nervous system anomalies. Mutations in podocyte proteins, such as nephrin, alpha-actinin 4, and podocin, are associated with proteinuria and nephrotic syndrome. The genetic defect in Galloway-Mowat syndrome is as yet unknown. We postulated that in Galloway-Mowat syndrome the mutation would be in a protein that is expressed both in podocytes and neurons, such as synaptopodin, GLEPP1, or nephrin. We therefore analyzed kidney tissue from normal children (n=3), children with congenital nephrotic syndrome of the Finnish type (CNF, n=3), minimal change disease (MCD, n=3), focal segmental glomerulosclerosis (FSGS, n=3), and Galloway-Mowat syndrome (n=4) by immunohistochemistry for expression of synaptopodin, GLEPP1, intracellular domain of nephrin (nephrin-I), and extracellular domain of nephrin (nephrin-E). Synaptopodin, GLEPP1, and nephrin were strongly expressed in normal kidney tissue. Nephrin was absent, and synaptopodin and GLEPP1 expression were decreased in CNF. The expression of all three proteins was reduced in MCD and FSGS; the decrease in expression being more marked in FSGS. Synaptopodin, GLEPP1, and nephrin expression was present, although reduced in Galloway-Mowat syndrome. We conclude that the reduced expression of synaptopodin, GLEPP1, and nephrin in Galloway- Mowat syndrome is a secondary phenomenon related to the proteinuria, and hence synaptopodin, GLEPP1, and nephrin are probably not the proteins mutated in Galloway-Mowat syndrome.
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PMID:Podocyte proteins in Galloway-Mowat syndrome. 1179 93

We report two brothers with microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis. The elderbrother showed nephrotic syndrome from 2 years of age and died of renal failure at 8 years of age. The younger brother showed mild proteinuria from 2 years of age, and his renal function was still preserved at 15 years of age. We propose that our patients may be affected with a mild form of Galloway-Mowat syndrome or another autosomal recessive syndrome with focal segmental glomerulosclerosis and central nervous system abnormalities.
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PMID:Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. 1269 86

Galloway-Mowat syndrome (GMS) is a rare autosomal-recessive disorder characterised by nephrotic syndrome, microcephaly, and variable brain anomalies. The prognosis is poor with death almost inevitably supervening before the age of 6 years, but atypical cases with later onset of proteinuria and a more protracted course are on record. We report a female offspring from consanguineous parents suffering from microcephaly, profound psychomotor retardation, epilepsy, hiatal hernia, and striking cerebellar atrophy in whom a nephrotic syndrome became apparent at age 16 years. Renal biopsy revealed focal segmental glomerulosclerosis and glomerular basement membrane abnormalities. We postulate that this patient had a milder form of GMS with severe and diffuse cerebellar atrophy as the leading central nervous system abnormality.
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PMID:Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. 1621 10

Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting with proteinuria. To identify additional monogenic disease causes, we here performed whole exome sequencing (WES), linkage analysis, and homozygosity mapping in three affected siblings of an Indian family with GAMOS. Applying established criteria for variant filtering, we identify a novel homozygous splice site mutation in the gene WDR4 as the likely disease-causing mutation in this family. In line with previous reports, we observe growth deficiency, microcephaly, developmental delay, and intellectual disability as phenotypic features resulting from WDR4 mutations. However, the newly identified allele additionally gives rise to proteinuria and nephrotic syndrome, a phenotype that was never reported in patients with WDR4 mutations. Our data thus expand the phenotypic spectrum of WDR4 mutations by demonstrating that, depending on the specific mutated allele, a renal phenotype may be present. This finding suggests that GAMOS may occupy a phenotypic spectrum with other microcephalic diseases. Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated. Our findings thereby support the recent observation that, like neurons, podocytes of the renal glomerulus are particularly vulnerable to cellular defects resulting from altered tRNA modifications.
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PMID:Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. 3007 90