Sphingolipid activator proteins in a human hereditary renal disease with deposition of disialogangliosides

1996 ◽  
Vol 28 (10) ◽  
pp. 681-687 ◽  
Author(s):  
Anni Haltia ◽  
Marja-Liisa Solin ◽  
Hannu Jalanko ◽  
Christer Holmberg ◽  
Aaro Miettinen ◽  
...  
Keyword(s):  
Renal Disease ◽  
Activator Proteins ◽  
Hereditary Renal Disease

MO046NGS PANEL PERFORMANCE IN THE DIAGNOSIS OF HEREDITARY RENAL DISEASE IN SOUTHERN SPAIN

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
María del Mar Del Águila García ◽  
Antonio M Poyatos Andújar ◽  
Ana Isabel Morales García ◽  
Margarita Martínez Atienza ◽  
Susana García Linares ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Renal Disease ◽  
Polycystic Kidney Disease ◽  
Genetic Study ◽  
Alport Syndrome ◽  
Autosomal Dominant ◽  
Kidney Diseases ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Hereditary Renal Disease

Abstract Background and Aims Hereditary renal disease (HRD) is still underdiagnosed: although we know aspects related to autosomal dominant polycystic kidney disease (ADPKD), we know little about the incidence and prevalence of other entities such as Alport syndrome. Altogether, HRD can represent 15% of individuals undergoing renal replacement therapy (RRT) or could even be higher. The advancement of genetics at the healthcare level let to achieve accurate and early renal diagnoses, as well as the incorporation of genetic counseling to families, all of which will result in better management of the disease in its initial stages and the possibility of offering reproductive options that avoid transmission to offspring. Our objective is to know the performance offered by the implementation of the ERH panel through Next Generation Sequencing (NGS) in our healthcare area. Method Observational-descriptive study of 259 probands (141 men / 118 women), mean age of 46 years (30 pediatric / 123 over 50 years), with chronic kidney disease and suspected hereditary cause attended in the specialized consultation of our centers from October 2018 to October 2020. The DNA extracted from leukocytes obtained by venipuncture was processed with Nephropathies Solution version 3 panel (SOPHiA Genetics) according to the manufacturer's protocol. This panel covers the coding regions and splicing junctions of 44 HRD-related genes such as nephrotic syndromes, polycystic kidney diseases, Bartter syndromes, Alport syndrome, CAKUT or tubulopathies (table 1). The sequencing of the libraries was done in a MiSeq (Illumina Inc), the bioinformatic analysis of the data and annotation of variants was performed using the SOPHiA DDM 5.8.0.3 software, and the revision of variants by consulting the main databases (ClinVar, Exac, HGMD, NCBI, PKD Foundation, LOVD). Results The panel was informative (pathogenic or probably pathogenic) in 80/259 patients (31%) and 56/259 cases (21.66%) of variants of uncertain significance (VSI) were detected. Autosomal dominant polycystic kidney disease accounted for 76.2% of the variants identified (56.2% PKD1, 20% PKD2), following Alport syndrome with 15% and the alterations in the PKHD1 gene associated with renal polycystic disease in its recessive form with about 4% (Figure 1). We have also identified a case of autosomal dominant tubulointerstitial kidney disease associated with the UMOD gene that was not suspected until the genetic study was performed. We highlight that 45% (36/80) of the variants identified as responsible for the renal disease are not yet described. Overall, the most prevalent type of mutation is that which produces displacement in the reading frame or frameshift (Figure 2). Individually, frameshift is the most frequent alteration in PKD1, PKD2 and COL4A5, while for PKHD1, COL4A3 and COL4A4 it is missense. Conclusion Our NGS HRD panel a) offers an adequate diagnostic performance at the healthcare level, with definitive results in 1 out of 3 cases and has also allowed the performance of many carrier studies among family members b) is able of diagnosing the most frequent disease, ADPKD and Alport syndrome, as well as unresolved or poorly characterized cases, and c) opens the horizon for new diagnoses, all without increasing costs by outsourcing services. All this makes the genetic study of renal pathology a useful and efficient strategy. These results encourage us to enhance the resources in this area that we consider to be of strategic value.

Hearing Loss in Hereditary Renal Disease

1968 ◽  
Vol 88 (3) ◽  
pp. 238-241 ◽  
Author(s):  
L. E. Winter ◽  
B. M. Cram ◽  
J. D. Banovetz
Keyword(s):  
Hearing Loss ◽  
Renal Disease ◽  
Hereditary Renal Disease

Hereditary renal disease

2018 ◽  
pp. 297-297
Author(s):  
David Oliveira ◽  
Stella Woodward
Keyword(s):  
Renal Disease ◽  
Hereditary Renal Disease

HEREDITARY RENAL DISEASE ASSOCIATED WITH NERVE DEAFNESS AND OCULAR LESIONS

PEDIATRICS ◽  
1957 ◽  
Vol 20 (2) ◽  
pp. 241-252
Author(s):  
R. B. Goldbloom ◽  
F. C. Fraser ◽  
Douglas Waugh ◽  
M. Aronovitch ◽  
F. W. Wiglesworth
Keyword(s):  
Renal Disease ◽  
Dominant Gene ◽  
Renal Lesion ◽  
Ocular Lens ◽  
Histologic Appearance ◽  
Hereditary Syndrome ◽  
Ocular Lesions ◽  
Hereditary Renal Disease

A family with an unusual hereditary syndrome characterized by renal disease, nerve deafness, and sometimes by lesions of the ocular lens, is reported. A total of 10 apparently unrelated families are known to us, either in the literature or in unpublished data, to have been affected by the syndrome. The pattern of inheritance of the renal disease appears to be due to a dominant gene, which may be partially sex-linked, males being more severely affected than females. Evidence is presented which indicates that the auditory and ocular lesions are due to the presence of the same abnormal gene. The histologic appearance of the terminal renal lesion is usually that of a chronic interstitial pyelonephritis. Suggestions regarding the possible etiology of the syndrome are advanced.

Hereditary Renal Disease in a Mutant Strain of Rats

Science ◽  
1967 ◽  
Vol 156 (3783) ◽  
pp. 1742-1744 ◽  
Author(s):  
B. B. Lozzio ◽  
A. I. Chernoff ◽  
E. R. Machado ◽  
C. B. Lozzio
Keyword(s):  
Renal Disease ◽  
Mutant Strain ◽  
Hereditary Renal Disease

BENIGN FAMILIAL HEMATURIA

PEDIATRICS ◽  
1969 ◽  
Vol 44 (4) ◽  
pp. 590-593
Author(s):  
Melvin I. Marks ◽  
Keith N. Drummond
Keyword(s):  
Renal Disease ◽  
Family Members ◽  
Renal Tissue ◽  
Interstitial Tissue ◽  
History Of ◽  
Health And Development ◽  
Long Term Prognosis ◽  
General Physical ◽  
Hereditary Renal Disease

Asymptomatic persistent renal hematuria of 6 months to 8 years' duration was observed in seven of eight siblings. There was no family history of renal disease or deafness, and other family members examined showed normal urinalyses; none of the other known forms of hereditary renal disease were detected. Abnormalities of renal function or general physical health and development were not detected. Renal biopsies were performed in the two patients with the longest history of hematuria (7 and 8 years). Light and immunofluorescence microscopic study of renal tissue revealed no abnormalities of glomeruhi or interstitial tissue. This familial condition is characterized by persistent microscopic hematuria with episodic gross hematuria and a favorable long-term prognosis. Although the pathogenesis is unclear, an immune process does not appear to be involved. Microscopic examination of the urine of family members in hematuria without an obvious etiology is warranted.

Hereditary Renal Disease with Neurosensory Hearing Loss, Prolinuria and Ichthyosis

1968 ◽  
Vol 256 (3) ◽  
pp. 166-179 ◽  
Author(s):  
R. A. Goyer ◽  
J. Reynolds ◽  
J. Burke ◽  
P. Burkholder
Keyword(s):  
Hearing Loss ◽  
Renal Disease ◽  
Hereditary Renal Disease
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