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Journal articles on the topic 'Alport`s syndrome'

Author: Grafiati

Published: 4 June 2021

Last updated: 14 February 2022

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1

GRONDALSKI, STEVEN JOSEPH, and G. RICHARD BENNETT. "Alport??s Syndrome: Review and Case Report." Optometry and Vision Science 66, no. 6 (June 1989): 396–98. http://dx.doi.org/10.1097/00006324-198906000-00010.

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2

Gettelfinger, John, and John Dahl. "Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics." Journal of Pediatric Genetics 07, no. 01 (January 4, 2018): 001–8. http://dx.doi.org/10.1055/s-0037-1617454.

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AbstractCongenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF.

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3

Vedantham, Vasumathy, Jyothsna Rajagopal, and PraveenKrishna Ratnagiri. "Bilateral simultaneous anterior and posterior lenticonus in Alport′s syndrome." Indian Journal of Ophthalmology 53, no. 3 (2005): 212. http://dx.doi.org/10.4103/0301-4738.16691.

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Rezaie-Jami, Taiebeh, Mohammad Reza Khoshsorour, Mohsen Islami, Behzad Amir-Ansari, Mohammad Reza Ganji, Dariush Daneshvar Farhud, and Behrooz Broumand. "Situs inversus: An Uncommon Extrarenal Association of Alport’s Syndrome." Nephron 74, no. 2 (1996): 426. http://dx.doi.org/10.1159/000189349.

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5

Pingen, C. H., W. Hecht, M. Reinacher, and L. Brachthäuser. "Rubber jaw in a Weimaraner dog due to juvenile nephropathy." Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere 41, no. 03 (2013): 198–202. http://dx.doi.org/10.1055/s-0038-1623700.

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SummaryThe case of a 5-month-old male Weimaraner dog with severe osteodystrophia fibrosa (rubber jaw) and renal insufficiency is presented. Kidneys were smaller than normal with a granular cortical surface and a histopathological end-stage diagnosis consistent with juvenile nephropathy. Analysis of four described genetic mutations associated with Alport syndrome in dogs revealed no evidence for familiar inheritance in this dog.

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6

Denne, C., H. Hahn, M. Steinborn, S. Hosie, J. C. Lenz, F. Höpner, and S. Burdach. "Ultrasound: A Helpful Diagnostic Tool in Esophageal Leiomyomatosis with Alport Syndrome." Ultraschall in der Medizin - European Journal of Ultrasound 32, no. 03 (July 7, 2010): 311–12. http://dx.doi.org/10.1055/s-0029-1245532.

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7

Basta-Jovanovic, Gordana, Sanja Radojevic-Skodric, Milena Jovanovic, Ljiljana Bogdanovic, Radovan Bogdanovic, Visnja Lezaic, Vidosava Nesic, and Steven Dikman. "The significance of Goodpasture antigen in hereditary nephritis." Srpski arhiv za celokupno lekarstvo 136, Suppl. 4 (2008): 282–86. http://dx.doi.org/10.2298/sarh08s4282b.

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INTRODUCTION. Two types of hereditary nephritis, nonprogressive and progressive, clinically present as asymptomatic haematuria, sometimes combined with proteinuria. At the onset, in both types, light microscopic changes are minimal, immunofluorescence findings are negative, and diagnosis can be made only upon electron microscopic findings that are considered to be specific. OBJECTIVE. The aim of this study was to determine the significance of Goodpasture antigen detection in diagnosis of progressive and nonprogressive hereditary nephritis in its early phase. METHOD. Analysis of renal biopsy specimens was done in patients with hereditary nephritis that were followed from 1990 to 2005. Progression of renal disease was examined in 14 patients with Alport?s syndrome, 10 patients with thin basement membrane disease, and 6 patients with unclassified hereditary nephritis diagnosed. For all these cases, indirect immunofluorescence study with serum from a patient with high titer of Goodpasture autoantibodies that recognize the antigenic determinants in human glomerular and tubular basement membrane was performed. RESULTS. In 11 out of 14 cases diagnosed as Alport?s syndrome, there was negative staining with Goodpasture serum, and in 3 additional cases with Alport?s syndrome, expression of Goodpasture antigen in glomerular basement membrane and thin basement membrane was highly reduced. In all 10 patients with thin basement membrane disease, immunofluorescence showed intensive, bright linear staining with Goodpasture serum along glomerular and tubular basement membrane. In 2 out of 6 patients with unclassified hereditary nephritis, Goodpasture antigen expression was very strong, in one patient it was very reduced, and in 3 patients it was negative. CONCLUSION. The results of our study show that Goodpasture antigen detection plays a very important role in differential diagnosis of progressive and nonpregressive hereditary nephritis, particularly in early phases of the disease.

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Aksoy, Adnan, Ibrahim Yasar, Murat Aslankurt, Lokman Aslan, and Oguz Oguzhan. "Bilateral anterior lenticonus in a young patient with Alport and #8217;s syndrome." Gaziantep Medical Journal 21, no. 1 (2015): 65. http://dx.doi.org/10.5455/gmj-30-163945.

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Rassoul, Z., A. A. Al-Khader, M. Al-Sulaiman, J. M. Dhar, and P. Coode. "Recurrent Allograft Antiglomerular Basement Membrane Glomerulonephritis in a Patient with Alport’s Syndrome." American Journal of Nephrology 10, no. 1 (1990): 73–76. http://dx.doi.org/10.1159/000168058.

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10

GIBSON, JANE, RODNEY D. GILBERT, DAVID J. BUNYAN, ELIZABETH M. ANGUS, DARREN J. FOWLER, and SARAH ENNIS. "Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant." Genetics Research 95, no. 6 (December 2013): 165–73. http://dx.doi.org/10.1017/s0016672313000220.

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SummaryA girl aged 6 presented with haematuria and her sister (aged 5) presented with haematuria and proteinuria. Family history showed multiple individuals suffering from end stage renal failure from the paternal side of the pedigree. Following kidney biopsy in the father and paternal grandmother, the pathological diagnosis was of focal segmental glomerulosclerosis (FSGS). Exome sequencing was undertaken in the proband's sister and grandmother. Genetic variants shared by both affected individuals were interrogated to identify the genetic cause of disease. Candidate variants were then sequenced in all the family members to determine segregation with the disease. A mutation of COL4A5 known to cause Alport syndrome segregated with disease from the paternal side of the pedigree and a variant in NPHS1 was present in both paediatric cases and inherited from their mother. This study highlights the advantages of exome sequencing over single gene testing; disease presentation can be heterogeneous with several genes representing plausible candidates; candidate gene(s) may be unavailable as a diagnostic test; consecutive, single gene testing typically concludes once a single causal mutation is identified. In this family, we were able to confirm a diagnosis of Alport syndrome, which will facilitate testing in other family members.

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Cıtırık, Mehmet, Cosar Batman, Gamze Men, Murvet Tuncel, and Orhan Zılelıoglu. "Electron microscopic examination of the anterior lens capsule in a case of Alport?s syndrome." Clinical and Experimental Optometry 90, no. 5 (September 2007): 367–70. http://dx.doi.org/10.1111/j.1444-0938.2007.00134.x.

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12

Kucuk, Hasan, ZerrinBicik Bahcebasi, Ozger Akarsu, and Mehmet Yildirim. "Encapsulating peritoneal sclerosis in a patient with Alport′s syndrome on long-term peritoneal dialysis." Saudi Journal of Kidney Diseases and Transplantation 25, no. 2 (2014): 419. http://dx.doi.org/10.4103/1319-2442.128607.

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13

Bhave, Gautam, Selene Colon, and Nicholas Ferrell. "The sulfilimine cross-link of collagen IV contributes to kidney tubular basement membrane stiffness." American Journal of Physiology-Renal Physiology 313, no. 3 (September 1, 2017): F596—F602. http://dx.doi.org/10.1152/ajprenal.00096.2017.

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Basement membranes (BMs), a specialized form of extracellular matrix, underlie nearly all cell layers and provide structural support for tissues and interact with cell surface receptors to determine cell behavior. Both macromolecular composition and stiffness of the BM influence cell-BM interactions. Collagen IV is a major constituent of the BM that forms an extensively cross-linked oligomeric network. Its deficiency leads to BM mechanical instability, as observed with glomerular BM in Alport syndrome. These findings have led to the hypothesis that collagen IV and its cross-links determine BM stiffness. A sulfilimine bond (S = N) between a methionine sulfur and a lysine nitrogen cross-links collagen IV and is formed by the matrix enzyme peroxidasin. In peroxidasin knockout mice with reduced collagen IV sulfilimine cross-links, we find a reduction in renal tubular BM stiffness. Thus this work provides the first direct experimental evidence that collagen IV sulfilimine cross-links contribute to BM mechanical properties and provides a foundation for future work on the relationship of BM mechanics to cell function in renal disease.

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Ziogas, Ioannis A., Konstantinos S. Mylonas, Georgios Tsoulfas, Eleftherios Spartalis, Nikolaos Zavras, Nikolaos Nikiteas, and Dimitrios Schizas. "Diffuse Esophageal Leiomyomatosis in Pediatric Patients: A Systematic Review and Quality of Evidence Assessment." European Journal of Pediatric Surgery 29, no. 06 (December 21, 2018): 487–94. http://dx.doi.org/10.1055/s-0038-1676507.

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Background Diffuse esophageal leiomyomatosis (DEL) is a rare disorder characterized by benign hypertrophy of esophageal smooth muscle cells. No rigorous summary of available evidence on how to best manage these patients exists. Objective To define the clinical features and outcomes of pediatric patients with DEL. Materials and Methods A systematic literature search of the PubMed and Cochrane databases was performed with respect to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement (end-of-search date: October 6, 2018). The algorithm: “esophageal leiomyomatosis AND (children OR pediatric*)” was implemented. Results Thirty-five studies including a total of 58 patients were analyzed. The female:male ratio was 1.45:1. Mean patient age was 8.54 ± 4.67 years. The most common disease manifestations were dysphagia and gastrointestinal symptoms (90.0%, 95% confidence interval [CI]: 78.2–96.1), followed by failure to thrive (57.9%, 95% CI: 36.2–76.9) and pulmonary symptoms (56.4%, 95% CI: 41.0–70.7). Alport syndrome (AS) was seen in 57.7% (95% CI: 44.2–70.1) of the patients. The most commonly implemented procedure was esophagectomy (85.2%; n = 46/54; 95% CI: 73.1–92.6) with gastric transposition (37.8%; n = 17/45; 95% CI: 25.1–52.4). Postoperative complications developed in 33.3% (n = 15/45; 95% CI: 21.3–48) of the patients. All-cause mortality was 7.0% (95% CI: 2.3–17.2) and disease-specific mortality was 3.5% (95% CI: 0.3–12.6). Conclusion DEL is an uncommon condition that typically occurs in the setting of AS. Esophagectomy with gastric transposition is the mainstay of treatment. Although complications develop in one-third of the patients, mortality rates are low.

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Dimitrijevic, Jovan, Vera Todorovic, Anastasija Aleksic, Dijana Jovanovic, Dijana Pilcevic, Sanja Vignjevic, Sava Micic, et al. "Alport’s syndrome and benign familial haematuria: Light and electron microscopic studies of the kidney." Srpski arhiv za celokupno lekarstvo 136, Suppl. 4 (2008): 275–81. http://dx.doi.org/10.2298/sarh08s4275d.

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INTRODUCTION. Hereditary nephropathy is clinically characterized by the familial occurrence in successive generations of progressive haematuric nephritis and neural hearing loss. Hereditary nephropathy of Alport?s syndrome (AS) and benign familial (recurrent) haematuria (BFH) are morphologically characterized by specific and diagnostically important thickening and splitting of lamina densa of the glomerular basement membranes. Those lesions can be recognized only by electron microscopy. Hereditary nephritis is usually present clinically with haematuria, and new mutations without a family history of haematuria. It is therefore important to differentiate hereditary nephritis from BFH and no familial haematuria. Thus, electron microscopy is essential in diagnosis of haematuria. OBJECTIVE. The aim of this study was to describe, by light microscopy, constellation of renal alterations by which hereditary nephropathy can be recognized with high probability as well as to compare the diagnostic validity of the findings observed by light and electron microscopy in AS and BFH. METHOD. We examined 48 renal biopsies of the patients with hereditary nephoropathies by light and electron microscopy. Tissue samples were fixed in buffered paraformaldehyde and embedded in paraffin for long-term preservation. For the electron microscopy analysis, the following fixation in 4% glutaraldehyde tissue was postfixed in 1% osmium tetroxide. Thereafter, the following dehydration procedure tissue slices were embedded in epon. RESULTS. Our results demonstrated that the interstitial foam cells, foetal-like glomeruli, minimal glomerular abnormalities with stain less intense in basement membranes, mild irregular mesangial widening, focal thickening of Bowman?s capsule, foci of dilatation tubules, tubular ectasia and atrophy, erythrocyte tubules casts were present in hereditary nephritis. Additionally, light microscopic biopsy findings in patients with BFH were either normal or revealed minor changes (e.g. increased mesangial matrix). All biopsies were reevaluated by electron microscopy and ultrastructural findings confirmed the diagnosis of hereditary nephropathies. CONCLUSION. The findings observed by light microscopy represent an important step that leads to a definitive diagnosis of AS and BFH. The definitive diagnosis, however, depends on electron microscopy.

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Snoek, Rozemarijn, Marijn F. Stokman, Klaske D. Lichtenbelt, Theodora C. van Tilborg, Cindy E. Simcox, Aimée D. C. Paulussen, Jos C. M. F. Dreesen, et al. "Preimplantation Genetic Testing for Monogenic Kidney Disease." Clinical Journal of the American Society of Nephrology 15, no. 9 (August 27, 2020): 1279–86. http://dx.doi.org/10.2215/cjn.03550320.

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Background and objectivesA genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as preimplantation genetic diagnostics) is a reproductive technology that helps prospective parents to prevent passing on (a) disease-causing mutation(s) to their offspring. Here, we provide a clinical overview of 25 years of preimplantation genetic testing for monogenic kidney disease in The Netherlands.Design, setting, participants, & measurements This is a retrospective cohort study of couples counseled on preimplantation genetic testing for monogenic kidney disease in the national preimplantation genetic testing expert center (Maastricht University Medical Center+) from January 1995 to June 2019. Statistical analysis was performed through chi-squared tests.ResultsIn total, 98 couples were counseled regarding preimplantation genetic testing, of whom 53% opted for preimplantation genetic testing. The most frequent indications for referral were autosomal dominant polycystic kidney disease (38%), Alport syndrome (26%), and autosomal recessive polycystic kidney disease (9%). Of couples with at least one preimplantation genetic testing cycle with oocyte retrieval, 65% experienced one or more live births of an unaffected child. Of couples counseled, 38% declined preimplantation genetic testing for various personal and technical reasons.ConclusionsReferrals, including for adult-onset disease, have increased steadily over the past decade. Though some couples decline preimplantation genetic testing, in the couples who proceed with at least one preimplantation genetic testing cycle, almost two thirds experienced at least one live birth rate.

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Tesarova, M., J. A. Mayr, L. Wenchich, H. Hansikova, M. Elleder, K. Blahova, W. Sperl, and J. Zeman. "Mitochondrial DNA Depletion in Alpers Syndrome." Neuropediatrics 35, no. 4 (July 2004): 217–23. http://dx.doi.org/10.1055/s-2004-821081.

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18

Gauthier-Villars, Marion, P. Landrieu, Valérie Cormier-Daire, E. Jacquemin, D. Chrétien, Agnès Rötig, P. Rustin, A. Munnich, and Pascale de Lonlay. "Respiratory Chain Deficiency in Alpers Syndrome." Neuropediatrics 32, no. 3 (June 2001): 150–52. http://dx.doi.org/10.1055/s-2001-16614.

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Spiegler, J., I. Stefanova, Y. Hellenbroich, and J. Sperner. "Bowel Obstruction in Patients with Alpers-Huttenlocher Syndrome." Neuropediatrics 42, no. 05 (October 2011): 194–96. http://dx.doi.org/10.1055/s-0031-1287812.

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Bortolin, K., G. Chavhan, I. Siddiqui, and S. C. Ling. "A177 AN UNUSUAL CULPRIT OF AN UPPER GASTROINTESTINAL BLEED IN A PAEDIATRIC PATIENT." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (February 2020): 43–44. http://dx.doi.org/10.1093/jcag/gwz047.176.

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Abstract Background Leiomyomas are benign tumors originating from mesenchymal cells in the muscularis propria that present equally among the sexes usually as localized lesions after the fifth decade. Though rare, esophageal leiomyomas (EL) make up the majority of benign esophageal tumors and are typically located distally. Of all known cases, 2.6% are paediatric. In this population they are 1.71 times more common in females and are often diffuse. Most are slow growing and asymptomatic but when >5cm patients describe dysphagia, vomiting, pain, cough and anorexia. Gastric leiomyomas causing upper gastrointestinal bleeding (UGIB) in adults are reported. Aims To discuss a rare cause of UGIB in a child. Methods Case report. Results We present a 16-year-old Asian boy with no significant past medical history who was transferred to our institution for an UGIB following 3 days of dark black stools, 1 day of coffee ground emesis and pre-syncope. There was no history of non-steroidal anti-inflammatory use. At presentation he was in shock and received fluid resuscitation and a pantoprazole infusion. His hemoglobin dropped to 81 from 150g/L and corrected with 2 units of packed red blood cells. He was pale, non-dysmorphic with no cutaneous lesions, abdomen was non-distended and non-tender with no masses or hepatosplenomegaly. An abdominal ultrasound showed mild bowel wall thickening in the cecum and terminal ileum. Emergent upper endoscopy identified an ulcerated sessile mass at the gastro-esophageal junction. Biopsies revealed polypoid inflamed gastric mucosa with a focal intestinal metaplasia, negative for malignancy. Magnetic resonance scan characterized a 3.8x4.3x2.5cm lesion in the stomach cardia not extending beyond the serosa with suggested causes including EL and gastrointestinal stromal tumor (GIST). Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) demonstrated a 2.8x1.8cm well circumscribed homogenous hypoechoic mass in the muscularis propria of the distal esophagus. Histopathology showed bland tumor cells with eosinophilic cytoplasm and nuclei that did not demonstrate atypia. Immunohistochemistry (IHC) stains were positive for smooth muscle actin and desmin. CD117, S-100 and DOG1 were negative. Findings were therefore in keeping with a leiomyoma and not a GIST. He was referred to the Cancer Genetics clinic for consideration of hereditary leiomyomatosis renal cell cancer and General Surgery for resection. Conclusions This case highlights a rare cause of UGIB in a child. EL are scarcely found in children and at present there are no reports of EL causing UGIB. They can be associated with Alport Syndrome or Familial Leiomyomatosis. IHC is an essential diagnostic tool, enabling differentiation of EL from GIST which is important as the latter has malignant potential. EL can be monitored with endoscopy if small but are surgically resected if symptomatic, ulcerated, or growing. Funding Agencies None

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Miner, J. H., and J. R. Sanes. "Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches." Journal of Cell Biology 127, no. 3 (November 1, 1994): 879–91. http://dx.doi.org/10.1083/jcb.127.3.879.

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Collagen IV is a major component of vertebrate basal laminae (BLs). Studies in humans have revealed a family of genes encoding alpha 1-alpha 6 collagen IV chains and implicated alpha 3-alpha 6 in disease processes (Goodpasture and Alport syndromes and diffuse leiomyomatosis). To extend studies of these components to an experimentally accessible animal, we cloned cDNAs encoding partial collagen alpha 3, alpha 4, and alpha 5(IV) chains from the mouse. Ribonuclease protection assays showed that all three genes were expressed at highest levels in kidney and lung; alpha 5(IV) was also expressed at high levels in heart. We then made antibodies specific for each collagen IV chain. Immunohistochemical studies of several tissues revealed many combinations of collagen IV chains; however, alpha 3 and alpha 4 (IV) were always coexpressed, and only appeared in BLs that were alpha 5(IV) positive. The alpha 3-alpha 5(IV) chains were frequently but not exclusively associated with the S (beta 2) chain of laminin, as were the alpha 1, 2 (IV) collagen chains with laminin B1 (beta 1). An analysis of developing rat kidney BLs showed that newly formed (S-shaped) nephrons harbored collagen alpha 1 and alpha 2(IV) and laminin B1; maturing (capillary loop stage) BLs contained collagen alpha 1-alpha 5(IV) and laminin B1 and S-laminin; and mature glomerular BLs contained mainly collagen alpha 3-alpha 5(IV) and S-laminin. Thus, collagen alpha 1 and alpha 2(IV) and laminin B1 appear to be fetal components of the glomerular BL, and there is a developmental switch to collagen alpha 3-alpha 5(IV) and S-laminin expression.

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Brunetti-Pierri, N., K. Selby, M. O'Sullivan, G. Hendson, C. Truong, P. Waters, and L. J. Wong. "Rapidly Progressive Neurological Deterioration in a Child with Alpers Syndrome Exhibiting a Previously Unremarkable Brain MRI." Neuropediatrics 39, no. 03 (June 2008): 179–83. http://dx.doi.org/10.1055/s-0028-1093334.

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Ferrari, Simona, Lorenzo Pinelli, Anna Molinaro, Carlotta Spagnoli, Cesare Vezzoli, Filippo Palestra, Lucio Giordano, and Alessandro Iodice. "A Case of Alpers–Huttenlocher Syndrome Due to a New POLG1 Mutation with Rapid Onset of Partial Status Epilepticus: Serial Neuroradiological and Neurophysiological Evaluation." Journal of Pediatric Neurology 14, no. 03 (August 8, 2016): 112–18. http://dx.doi.org/10.1055/s-0036-1586726.

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Bertozzo, Marília, Amarilis Andrade, Luiz Lourençone, and Valdéia Oliveira. "Hearing Aid Adaptation and Alport Syndrome: A Case Report." International Archives of Otorhinolaryngology 18, S 01 (September 4, 2014). http://dx.doi.org/10.1055/s-0034-1389042.

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Höfele, J., S. Weber, S. Rath, I. Rost, and HG Klein. "High proportion of novel mutations in patients with Alport syndrome." Klinische Pädiatrie 223, S 01 (March 2011). http://dx.doi.org/10.1055/s-0031-1273864.

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Singh, Ravi Kumar, Veronica Arora, Vaibhav Tiwari, Deepti Gupta, Anurag Gupta, and Ratna Dua Puri. "Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation." Journal of Pediatric Genetics, July 27, 2020. http://dx.doi.org/10.1055/s-0040-1714363.

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AbstractAlport's syndrome (AS) is a rare disorder characterized by a triad of deafness, progressive renal dysfunction, and ocular abnormalities. We present a patient of early onset AS with a novel frameshift pathogenic variant in the COL4A5 gene and discuss the utility of genetic testing in the family as well as for the transplant recipient. The patient was a 17-year-old boy with end-stage renal disease (ESRD) and hearing loss. In the setting of ESRD, since hearing loss and anterior lenticonus was detected on an ophthalmologic exam, AS was suspected. On genetic testing, a novel hemizygous frameshift variant was identified in the COL4A5 gene (c.1392del (p.Asp464GlufsTer10)), which was also segregated in the family. In this report, we will discuss the early severe presentation, typical ocular findings, genotype–phenotype correlation, and implications of genetic testing for renal transplant. We will also explore the challenges of genetic testing in developing countries and the potential of pharmacogenomics.

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Petzold, Friederike, Anette Bachmann, Kerstin Amann, Tom H. Lindner, Udo Helmchen, Carsten Bergmann, and Jan Halbritter. "SP031GOLD, SILVER, AND BRONZE WITH HIS FATHER´S KIDNEY: A LIVING-DONOR KIDNEY TRANSPLANT IN A FAMILY WITH AUTOSOMAL ALPORT SYNDROME." Nephrology Dialysis Transplantation 34, Supplement_1 (June 1, 2019). http://dx.doi.org/10.1093/ndt/gfz103.sp031.

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Xie, Jingyuan. "P0065DOUBLE MUTATION INHERITANCE IN PATIENTS WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND ALPORT SUNDROME." Nephrology Dialysis Transplantation 35, Supplement_3 (June 1, 2020). http://dx.doi.org/10.1093/ndt/gfaa142.p0065.

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Abstract Background and Aims Focal segmental glomerulosclerosis (FSGS) and Alport syndrome (AS) are the leading causes of ESRD globally. FSGS and AS are clinically heterogeneous nephropathies and mainly genetic causes are the mutations in genes expressed in podocytes and glomerular basement membrane (GBM) respectively. A simple Mendelian model fail to explain the genetic control of both nephropathies completely because of the heterogeneous nature and presence of incomplete penetrance. Therefore, here we investigated the possible digenic control of FSGS and AS. Method To detect the double mutational (mono- or di-genic) cause of FSGS and AS, we conducted whole exome sequencing (WES) and panel sequencing in 67 kidney patients during the period of four years (2015 to June 2019). Inclusion criteria was the proband's clinical symptoms confirming the FSGS or AS based on clinical symptoms and renal biopsy. Clinical and genetic analyses were implemented to correlate the phenotypes with genotypes. Results Genetic analysis discovered that 35 out of 67 (52.23%) had genetic cause of selected nephropathies and 24 out of 35 (68.57%) had mutations in COL4A (3,4 & 5) genes and 11 (31.42%) in other genes. Interestingly, we found 7 out of 35 patients (20%) with double mutations (mono- or di-genic) in COL4A3/COL4A4 genes. After the mentioned period, during routine genetic screening, we also found another patient having double mutations in COL4A3 gene. Subsequently, Sanger sequencing confirmed that the identified mutations were co-segregating with the disease(s) in an incomplete penetrance fashion within the family. Lastly, we found 16 mutations in 8 patients having either monogenic or digeneic double mutations in COL4A3 and/or COL4A4 genes. In sum, we found 12 (75%) mutations in COL4A3 and 4 in COL4A4 (25%), and5 probands (62.5%) had compound heterozygous mutations in COL4A3, 1 proband (12.5%) had in COL4A4 and 2 probands (25%) had digenic (COL4A3/COL4A4) mutations. Last of all, among all the mutations, 10 were novel and 6 have been described previously. Conclusion This genetic analysis provides the first evidence for digenic inheritance of FSGS. The nephrologists and clinical geneticists should keep this possibility in mind for the accuracy in diagnosis, disease management and genetic counseling in future. Additionally, we are also adding 10 novel mutations in COL4A3 and COL4A4 genetic pools.

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Klemm, P., J. von Lengerken, M. Gajda, P. Hillemanns, and IB Runnebaum. "Leiomyomatose des äußeren Genitale als seltene Lokalisation eines Alport-Syndroms." Geburtshilfe und Frauenheilkunde 66, S 01 (September 19, 2006). http://dx.doi.org/10.1055/s-2006-952779.

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Spiegler, J., and J. Sperner. "Three Children with Alpers' syndrome 2007–2010." Neuropediatrics 41, no. 02 (August 2010). http://dx.doi.org/10.1055/s-0030-1265552.

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Straßer, K., AK Büscher, J. Höfele, AM Wingen, R. Büscher, U. Vester, PF Hoyer, and S. Weber. "Bild eines X-chromosomalen Alport-Syndroms bei einem heterozygoten Mädchen durch ungleiche X-Inaktivierung." Klinische Pädiatrie 223, S 01 (March 2011). http://dx.doi.org/10.1055/s-0031-1273865.

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Nagel, S., C. Hagel, H. Schäfer, E. Neumaier Probst, A. Das, K. Ullrich, and A. Kohlschütter. "Alpers-Huttenlocher syndrome: mitochondrial diseases of brain and liver." Neuropediatrics 35, no. 01 (March 4, 2004). http://dx.doi.org/10.1055/s-2004-819455.

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Hinkes, B., K. Dittrich, C. Nevinny-Stickel-Hinzpeter, K. Amann, and W. Rascher. "Ein neue COL4A5 Mutation als Ursache eines X-chromosomalen Alport-Syndroms bei einer Jugendlichen mit persistierender Mikrohämaturie." Klinische Pädiatrie 223, S 01 (March 2011). http://dx.doi.org/10.1055/s-0031-1273866.

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Utzig, N., C. Burtzlaff, R. Horvath, and H. Lauffer. "Severe mitochondrial disorder in spite of normal findings? Alpers syndrome due to homozygosity for A467T mutation in POLG gene." Neuropediatrics 37, no. 03 (September 20, 2006). http://dx.doi.org/10.1055/s-2006-953530.

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