IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report

Hao, Wenqi; Ao, Lina; Zhang, Chen-Li; Zhu, Lei; Xie, Deqiong

doi:10.1177/0300060519891290

Cited by 3 publications

(5 citation statements)

References 18 publications

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“…Having a family history of kidney disease with a diagnosis of IgA nephropathy, the patient was treated with the possibility of familial IgA nephropathy. However, the family was not thoroughly evaluated for Alport syndrome, while IgA nephropathy with Alport syndrome has been reported [ 3 ]. Alport Syndrome is a genetically heterogeneous disease caused by genes encoding alpha 3, 4, and 5 chains of IV collagen [ 1 ].…”

Section: Discussionmentioning

confidence: 99%

“…This patient had a family history of kidney disease with IgA nephropathy in family members, which led to a possible diagnosis of familial IgA nephropathy. Although family members were not thoroughly evaluated, such as electron-microscopic tissue examination and immunostaining for alpha-chain disorder and genetic studies, IgA nephropathy with Alport syndrome has been reported [ 3 ]. Another factor that led to the diagnosis of IgA nephropathy was the presence of familial IgA nephropathy with bilateral hearing impairment [ 13 ], although this is not common.…”

Section: Discussionmentioning

confidence: 99%

“…In some patients with Alport syndrome, whose exact mechanism is unknown, the collagen IV alpha chain may not be abnormal. Some mutations may have a more negligible effect on outcome and performance [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Pathogenic mutations in COL4A5 and mutations of COL4A3 and COL4A4 are transmitted through X-linked and autosomal patterns, respectively [ 2 ]. Coexistence of Alport syndrome with IgA nephropathy and even ANCA vasculitis has been reported as some case reports [ 3 , 4 ]. Due to the rarity of this disease, a high rate of misdiagnoses have been seen, especially in cases where there are no extrarenal manifestations.…”

Section: Introductionmentioning

confidence: 99%

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Alport syndrome misdiagnosed with IgA nephropathy from familial history: a case report and brief review

et al. 2023

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Background Alport syndrome is a rare inherited disease resulting from a primary disorder of the glomerular basement membrane. This disease results from mutations in genes encoding alpha chains of type IV collagen. In the differential diagnosis of this disease, IgA nephropathy is the most common primary glomerular disease with gross or microscopic hematuria. Case presentation A 50-year-old woman was presented with microscopic hematuria and proteinuria of under one gram. Due to the diagnosis of IgA nephropathy in family members, she was treated and followed up for 4 years as a possible case of IgA nephropathy. Eye examination and audiometry were normal. She underwent renal biopsy with an exacerbation of proteinuria. There was no finding in favor of IgA nephropathy in the histological examination, but the findings of electron microscopy and family history favored Alport syndrome. Conclusions This case demonstrates the importance of accurate history and electron microscopy in the complete histological evaluation and diagnosis of glomerular disease. Although in most cases the two can be differentiated based on clinical manifestations, laboratory findings, and histopathological examination, sometimes the association of these two diseases in the families involved or the lack of accurate history and complete histological examinations can complicate the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Alport syndrome misdiagnosed with IgA nephropathy from familial history: a case report and brief review

et al. 2023

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“…One case report described a 9-mo-old boy who was diagnosed with concomitant ATS and Klinefelter syndrome, with a homozygous single-nucleotide substitution found in the splice site of intron 41 of the COL4A5 gene by genomic DNA analysis[ 7 ]. In addition, IgA nephropathy can accompany ATS[ 8 ]. A study in 2017 involved two boys with IgA nephropathy, whose pathogenic COL4A5 mutations were identified by polymerase chain reaction-based screening[ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Alport syndrome combined with lupus nephritis in a Chinese family: A case report

Liu¹,

Li²,

Peng³

2021

WJCC

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BACKGROUND Alport syndrome (ATS) is a rare hereditary disease caused by mutations in genes such as COL4A3, COL4A4, and COL4A5 . ATS involves a spectrum of phenotypes ranging from isolated hematuria that is nonprogressive to progressive renal disease with extrarenal abnormalities. Although ATS can be combined with other diseases or syndromes, ATS combined with lupus nephritis has not been reported before. CASE SUMMARY A Chinese family with ATS was recruited for the current study. Clinical characteristics (including findings from renal biopsy) of ATS patients were collected from medical records, and potential causative genes were explored by whole-exome sequencing. A heterozygous substitution in intron 22 of COL4A3 (NM_000091 c.2657-1G>A) was found in the patients, which was further confirmed by quantitative polymerase chain reaction. CONCLUSION Heterozygous substitution of a COL4A3 gene splice site was identified by whole-exome sequencing, revealing the molecular pathogenic basis of this disorder. In general, identification of pathogenic genes can help to fully understand the molecular mechanism of disease and facilitate precise treatment.

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Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

Esposito,

Caputo,

Repetto

et al. 2023

BMC Nephrol

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Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipids, leading to progressive organ damage and reduced life expectancy. Due to the availability of specific disease-modifying treatments, proper and timely diagnosis and therapy are essential to prevent irreversible complications. However, diagnosis of FD is often delayed because of the wide clinical heterogeneity of the disease and multiple organ involvement developing in variable temporal sequences. This observation is also valid for renal involvement, which may manifest with non-specific signs, such as proteinuria and chronic kidney disease, which are also common in many other nephropathies. Moreover, an additional confounding factor is the possibility of the coexistence of FD with other kidney disorders. Thus, suspecting and diagnosing FD nephropathy in patients with signs of kidney disease may be challenging for the clinical nephrologist. Herein, also through the presentation of a unique case of co-occurrence of autosomal dominant polycystic kidney disease and FD, we review the available literature on cases of coexistence of FD and other renal diseases and discuss the implications of these conditions. Moreover, we highlight the clinical, laboratory, and histological elements that may suggest clinical suspicion and address a proper diagnosis of Fabry nephropathy.

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IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report

Cited by 3 publications

References 18 publications

Alport syndrome misdiagnosed with IgA nephropathy from familial history: a case report and brief review

Alport syndrome misdiagnosed with IgA nephropathy from familial history: a case report and brief review

Alport syndrome combined with lupus nephritis in a Chinese family: A case report

Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

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