1/69. Hereditary nephritis (with unusual renal histology): report of a first case from the west indies.A 21-year-old Grenadian girl undergoing investigation in Trinidad for anaemia was diagnosed as a case of hereditary nephritis. She had the clinical features of a nephropathy, nerve deafness and an ocular defect. Renal histology was exceptional in that in addition to the typical findings of a hereditary nephritis, cystic areas generally associated with medullary cystic disease were noted. Several members of the patient's maternal family were afflicted with either deafness visual distrubances or renal disease.- - - - - - - - - - ranking = 1keywords = nephritis (Clic here for more details about this article) |
2/69. Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families.BACKGROUND: genetic heterogeneity is a well-known feature of Alport syndrome (AS). Most families with AS show an X-linked dominant pattern of inheritance but about 15% of families show an autosomal inheritance of the disease. Autosomal recessive AS may account for 10% of the total number of cases and is caused by mutations in the COL4A3 and COL4A4 genes. The clinical spectrum of this rare disorder has not been well clarified. methods: We present two families with AS. Two affected members of these families have entered end-stage renal disease (ESRD) in their 30s, and the other three are older than 15 years and have normal serum creatinine. Four of the five patients have deafness but none have ocular abnormalities. Two have been transplanted and have not suffered from anti-GBM antibody nephritis. Men and women are equally affected. We have performed linkage analysis for chromosome 2 with the following markers: D2S279, COL4A3/4 DNTR, COL4A4 RFLP Hae III. RESULTS: We demonstrate that both families, one of them consanguineous, are linked to the COL4A3/4 locus. CONCLUSIONS: We can conclude that the only significant difference between the X-linked and the autosomal recessive forms of AS lies in the fact that in the latter females are as affected as males; thus the idea that autosomal recessive AS causes ESRD during childhood must be discarded. Other clinical features such as age of deafness or the presence of post-transplant anti-GBM antibody nephritis show no differences between the entities. Thus an accurate familial study is mandatory in patients with AS, as the identification of the different patterns of inheritance may cause a great difference in genetic counselling. Linkage analysis is the only effective molecular diagnosis that can be performed nowadays.- - - - - - - - - - ranking = 0.33333333333333keywords = nephritis (Clic here for more details about this article) |
3/69. Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred.A fourth kindred displaying the triad of hereditary nephritis, deafness and thrombocytopenia with giant platelets is described. Renal involvement, a common cause of death amongst afflicted subjects, appears to have a better prognosis in the affected members of this family. Although the electron microscopic appearance of the megakaryocytes in the present case appears similar to that in previously reported cases, we suggest that the "giant" platelets may result from a degenerative process of megakaryocytes leading to nuclear regression and cytoplasmic fragmentation, rather than the usual blebbing process.- - - - - - - - - - ranking = 0.83333333333333keywords = nephritis (Clic here for more details about this article) |
4/69. A novel G472R mutation in a Turkish family with X-linked Alport syndrome.Alport syndrome (AS) is a hereditary disorder of progressive nephritis. Most cases are X-linked, but autosomal forms have been reported. The X-linked form is associated with mutations in the COL4A5 gene that encodes the alpha 5 chain of type IV collagen. More than 200 mutations have been reported in X-linked AS. We report a novel 1616 G > A mutation resulting in glycine substitution to arginine at position 472 in a Turkish family with a severely affected man and several variably affected women. This is the first Turkish family in whom the molecular basis of the disease has been reported.- - - - - - - - - - ranking = 0.16666666666667keywords = nephritis (Clic here for more details about this article) |
5/69. Sporadic case of X-chromosomal Alport syndrome in a consanguineous family.Alport syndrome (AS) is a genetic disorder of basement membranes caused by mutations in type IV collagen genes that is characterized by chronic hematuria and progressive nephropathy leading to renal failure. The main extrarenal features include sensorineural hearing loss and ocular lesions. The mode of inheritance is X-linked dominant in about 80%-85% of the affected families, whereas autosomal transmission is rarely encountered. We report a male patient originating from a healthy consanguineous Lebanese family who presented with an unusual association of obstructive uropathy and AS. hematuria and proteinuria were initially attributed to a suspected poststreptococcal glomerulonephritis (GN) and high-grade subpelvic ureteral stenosis. Persistence of symptoms after medical treatment of poststreptococcal GN and surgical correction of obstructive uropathy finally led to renal biopsy. The observed ultrastructural changes of the glomerular basement membrane were typical for AS. Molecular genetic studies revealed a previously undescribed de novo mutation in the COL4A5 gene, excluding maternal heterozygotic carrier status. This case report emphasizes the importance of hereditary nephritis in the differential diagnosis of chronic hematuria, and demonstrates the value of molecular studies for genetic counselling in AS.- - - - - - - - - - ranking = 0.33333333333333keywords = nephritis (Clic here for more details about this article) |
6/69. Alport-like glomerular changes in a patient with nephrotic syndrome: report of a case.We report a 17-year-old Saudi girl who presented with nephrotic syndrome at the age of 7 years. A renal biopsy revealed a mildly proliferative immune complex-mediated glomerulonephritis, which on ultrastructural examination revealed prominent thickening of the capillary basement membranes, along with marked splitting and lamellation of lamina densa resembling those seen in Alport syndrome. These changes were even more pronounced in renal biopsies performed 1 and 3 years later, respectively. Thorough clinical evaluations and follow-up of more than 10 years failed to reveal any evidence of Alport syndrome. review of the literature revealed four similar cases reported previously. Diffuse and prominent Alport-like glomerular changes may rarely be seen in patients with nephrotic syndrome in the absence of Alport syndrome. Pathogenesis of these changes, however, remains to be understood.- - - - - - - - - - ranking = 0.16666666666667keywords = nephritis (Clic here for more details about this article) |
7/69. Familial interstitial nephritis with progressive renal failure.We describe a 53-year-old woman with chronic interstitial nephritis and asymptomatic impairment of renal function. Seven members of her family were suffering from renal failure and underwent hemodialysis. At the time of their hospital admissions, they had shown evidence of end-stage renal failure at 40 to 50 years of age. Lack of proteinuria, hematuria, hypertension, hyperuricemia, hearing loss, and visual impairment were present before the deterioration of the renal function. Renal biopsy of the presented case indicated chronic interstitial nephritis without glomerular basement membrane abnormalities. Progressive decline of renal function and the inheritance pattern of autosomal dominance in this family suggested the diagnosis of familial interstitial nephritis.- - - - - - - - - - ranking = 1.1666666666667keywords = nephritis (Clic here for more details about this article) |
8/69. Autosomal dominant nephritis with renal failure of non-Alport type: clinical and molecular studies.BACKGROUND: Familial nephritis is a heterogeneous group of disorders caused by several genetic conditions such as Alport syndrome, glomerulonephritic syndromes, and unclassified nephritis without deafness or ocular defects. OBJECTIVES: To describe a family of Iraqi Jewish origin, several of whose members suffer from non-syndromic renal failure without deafness or ocular defects and where transmission is by autosomal dominant inheritance. We present the case histories of four family members and describe the molecular analysis performed in order to seek a possible linkage to one of the genes causing Alport or Alport-like syndromes. methods: We investigated all family members over the age of 18 for evidence of renal failure. We also extracted dna and carried out molecular linkage analysis with polymorphic markers in each of the known loci involved in Alport and Alport-like syndromes. RESULTS: histology of the renal biopsy specimens showed non-specific findings. Linkage was excluded for all the Alport and Alport-like syndrome loci. CONCLUSIONS: The condition suffered by several members of this family seems to represent a unique autosomal dominant type of progressive hereditary nephritis, characterized by hypertension and progressive renal failure without significant hematuria or proteinuria. The main histological changes are non-specific in the early stage of the disease. Our study rules out all the currently known genes that cause Alport syndrome as being responsible for the basic defect in this type of nephritis.- - - - - - - - - - ranking = 1.3333333333333keywords = nephritis (Clic here for more details about this article) |
9/69. Hereditary nephritis with macrothrombocytopenia: phenotypic variety and the genotypic defect.A number of patients present to nephrologists with end-stage renal failure of unknown cause and many have small kidneys, making renal biopsy inadvisable. A small number may have clues to the diagnosis of hereditary nephritis, as in the patient we present here. The propositus was a 22-year-old man, who was admitted to our nephrology ward because of recently discovered renal insufficiency. Ultrasound examination revealed bilateral small kidneys. He was severely hypertensive; audiometry and ophthalmic examinations were normal. thrombocytopenia with giant platelets was observed in peripheral blood smears. Basophilic cytoplasmic inclusions (Dohle-like bodies) were present in neutrophil and basophilic granulocytes. A family history of nephropathy associated with macrothrombocytopenia was obtained. Epstein syndrome was diagnosed, a rare autosomal dominant disorder. He started hemodialysis and subsequently received a living donor kidney transplant (from his mother). Molecular genetics has considerably clarified the field of hereditary nephritis associated with macrothrombocytopenia by demonstrating that these syndromes involve a similar molecular defect. It was first shown that these syndromes were linked to the same locus on chromosome 22q. Then the gene involved--encoding non-muscle myosin heavy chain 9 (MYH9)--was identified. This entity ("MYH9 disease") must be clearly differentiated from Alport syndrome (type IV collagen disease). In conclusion, this case serves to remind us: 1) that in patients presenting late to nephrologists with bilateral small kidneys, the diagnosis can still be made in some instances on the basis of other clinical signs known to be associated with recognized inherited syndromes; 2) that there are various types of inherited thrombocytopenia associated with nephritis; screening for nephritis is mandatory in all of them.- - - - - - - - - - ranking = 1.3333333333333keywords = nephritis (Clic here for more details about this article) |
10/69. Alport syndrome-like basement membrane changes in frasier syndrome: an electron microscopy study.frasier syndrome (FS) is a rare disease characterized by male pseudohermaphroditism and slowly progressing nephropathy. FS originates from heterozygous mutation in the intron 9 splicing donor site of Wilms' tumor suppressor gene (WT1). Focal segmental glomerular sclerosis is common in FS, but there have not been so many detailed pathologic investigations. The authors examined the kidneys of 3 patients with FS. The results showed that nephropathy started as mesangial proliferative glomerulonephritis, and later a concomitant focal segmental lesion developed. In all cases, electron microscopy results showed widespread thinning, splitting, and lamellation of the glomerular basement membrane, which mimicked hereditary nephritis. Throughout adulthood, WT1 protein expresses on glomerular podocytes. Recent reports described that podocytes expressing WT1 play an important role in maintaining the glomerular basement membrane. Hereditary nephritis-like glomerular basement membrane findings in FS suggest that one of the important functions of podocytes is to form and maintain the glomerular basement membrane.- - - - - - - - - - ranking = 0.5keywords = nephritis (Clic here for more details about this article) |
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