Co-existence of Alport syndrome and C3 glomerulonephritis in a proband with family history

Ding, Yin; Tang, Xuanli; Du, Yuanyuan; Chen, Hongyu; Yu, Dongrong; Zhu, Bin; Yuan, Bohan

doi:10.1186/s40001-021-00543-5

Cited by 5 publications

(2 citation statements)

References 33 publications

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“…The presence of a glomerular disease (primary membranoproliferative GN/C3 glomerulopathy, IgA nephropathy) does not exclude AS [ 16 , 36 , 37 ]. The association between AS and immune glomerular diseases suggest that the abnormal GBM resulting from the presence of pathogenic COL4A3/A4/A5 variants may predispose to immune-mediated injury.…”

Section: What To Do When Alport Syndrome Is Strongly Suspected But a ...mentioning

confidence: 99%

The 2019 and 2021 International Workshops on Alport Syndrome

et al. 2022

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In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. In 1961, the eponymous name Alport syndrome was adopted. In the late twentieth century three genes responsible for the disease were discovered: COL4A3 , COL4A4 , and COL4A5 encoding for the α3, α4, α5 polypeptide chains of type IV collagen, respectively. These chains assemble to form heterotrimers of type IV collagen in the glomerular basement membrane. Scientists, clinicians, patient representatives and their families, and pharma companies attended the 2019 International Workshop on Alport Syndrome, held in Siena, Italy, from October 22 to 26, and the 2021 online Workshop from November 30 to December 4. The main topics included: disease re-naming, acknowledging the need to identify an appropriate term able to reflect considerable clinical variability; a strategy for increasing the molecular diagnostic rate; genotype-phenotype correlation from monogenic to digenic forms; new therapeutics and new therapeutic approaches; and gene therapy using gene editing. The exceptional collaborative climate that was established in the magical medieval setting of Siena continued in the online workshop of 2021. Conditions were established for collaborations between leading experts in the sector, including patients and drug companies, with the aim of identifying a cure for Alport syndrome.

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Section: What To Do When Alport Syndrome Is Strongly Suspected But a ...mentioning

confidence: 99%

The 2019 and 2021 International Workshops on Alport Syndrome

et al. 2022

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“…interstitial nephritis, IgA nephropathy, or membranous nephropathy) when there is negative DNA analysis or an atypical clinical course. It should, however, be noted that the presence of a glomerular disease such as IgA nephropathy or primary membranoproliferative glomerulonephritis on biopsy does not exclude Alport syndrome as the abnormal glomerular basement membrane in Alport syndrome may predispose the glomeruli to immune-mediated injury [ 38 , 39 ].…”

Section: Introductionmentioning

confidence: 99%

Explaining Alport syndrome—lessons from the adult nephrology clinic

Mabillard,

Ryan,

Tzoumas

et al. 2024

J Rare Dis

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Alport syndrome is a genetic kidney disease that causes worsening of kidney function over time, often progressing to kidney failure. Some types of Alport syndrome cause other symptoms and signs, including hearing loss and eye abnormalities. Research now indicates that Alport syndrome (autosomal dominant inheritance) is the most common form. Alport syndrome can have X-linked or a rare form of autosomal recessive inheritance. Traditionally, a kidney biopsy was used to diagnose Alport syndrome, but genetic testing provides a more precise and less invasive means of diagnosis and reveals the underlying pattern of inheritance. At present, there are no specific curative treatments for Alport syndrome however there is a strong international effort in pursuit of future therapies. Currently, angiotensin-converting enzyme inhibitors (ACEi), or an angiotensin receptor blocker (ARB) if a patient cannot tolerate an ACEi, slow down the progression of kidney disease and can delay the onset of kidney failure by years. There are other potential treatments in research that potentially can help delay the onset of kidney issues. Early treatment of patients and identification of their at-risk relatives is a priority. People living with Alport syndrome and their doctors now benefit from an active international research community working on translating further treatments into clinical practice and providing up-to-date clinical guidelines.

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Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

Zhang

Ding

et al. 2023

Calcif Tissue Int

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Rare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result in significant morbidity in patients, but the causes are highly diverse. Precise molecular diagnosis will benefit management and genetic counseling. This study aims to share the diagnostic experience on a three-generation Chinese family with co-occurrence of spondyloepiphyseal dysplasia (SED) and X-linked hypophosphatemia (XLH), and evaluate the therapeutic effects of two third-generation siblings. The proband, his younger brother, and mother presented with short stature, skeletal problems, and hypophosphatemia. His father, paternal grandfather, and aunt also manifested short stature and skeletal deformities. Whole exome sequencing (WES) of proband–brother–parents initially only found the proband and his younger brother had a pathogenic c.2833G > A(p.G945S) variant in the COL2A1 gene inherited from their father. Re-analysis of WES uncovered the proband and his younger brother also harbored a pathogenic ex.12 del variant in the PHEX gene transmitted from their mother. Sanger sequencing, agarose gel electrophoresis, and quantitative polymerase chain reaction proved these results. The proband and his younger brother were confirmed to have a paternally inherited SED and a maternally inherited XLH. During a 2.8-year follow-up, these two siblings remained short stature and hypophosphatemia, but their radiographic signs and serum bone alkaline phosphatase levels were improved with treatment of oral phosphate and calcitriol. Our study presents the first report of co-occurrence of SED and XLH, shows the possibility that two different rare GSDs co-exist in a single patient, and alerts clinicians and geneticists to be cautious about this condition. Our study also suggests that next-generation sequencing has limit in detecting exon-level large deletions.

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Co-existence of Alport syndrome and C3 glomerulonephritis in a proband with family history

Cited by 5 publications

References 33 publications

The 2019 and 2021 International Workshops on Alport Syndrome

The 2019 and 2021 International Workshops on Alport Syndrome

Explaining Alport syndrome—lessons from the adult nephrology clinic

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

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