Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at &lt;i&gt;NPHS1&lt;/i&gt; and &lt;i&gt;ADCK4&lt;/i&gt; genes in two Chinese siblings

Zhang, Hongwen; Wang, Fang; Liu, Xiaoyu; Zhong, Xing; Yao, Yong; Hu, Xin

doi:10.5582/irdr.2017.01037

Cited by 10 publications

(14 citation statements)

References 25 publications

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“…Also, the 2 COQ7 patients described showed peripheral polyneuropathy, again with SNHL and one of them with visual dysfunction(101,102). SNHL is very frequent, especially in COQ6 patients(16/26) (69,71,(107)(108)(109), /74), which generally progressed to ESRD(50,64,110,(112)(113)(114)(115)(116). Onset of SRNS may be before 10 years of age (29/74).Patients with PDSS1 (1/3) (96) and PDSS2 (7/7) (71,97-100)mutations also showed SRNS.…”

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confidence: 94%

Clinical syndromes associated with Coenzyme Q10 deficiency

Alcázar-Fabra

Trevisson

Brea-Calvo

2018

Essays in Biochemistry

124

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Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level. The associated clinical manifestations are highly heterogeneous and mainly affect central and peripheral nervous system, kidney, skeletal muscle and heart. Genotype-phenotype correlations are difficult to establish, mainly because of the reduced number of patients and the large variety of symptoms. In addition, mutations in the same gene can cause different clinical pictures. Here, we present an updated and comprehensive review of the clinical manifestations associated with each of the pathogenic variants causing primary CoQ deficiencies.

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confidence: 94%

Clinical syndromes associated with Coenzyme Q10 deficiency

Alcázar-Fabra

Trevisson

Brea-Calvo

2018

Essays in Biochemistry

124

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“…In cases with positive family history, 22.2% of patients developed COQ8B nephropathy aged 20 or older, but there were no reports of adult-onset COQ8B nephropathy in cases with negative family history (Fig. 3) [11,12,[19][20][21][22][23][24][25]. One possible explanation for this difference in onset is that underdiagnosis is more likely in cases with negative family history because the locations of mutations are not strongly correlated with age at onset.…”

Section: Discussionmentioning

confidence: 99%

“…Of four genes, mutation in COQ8B causes selective glomerular phenotype mostly without neurological and myopathic deficits [11,12,[19][20][21][22][23][24]. The age at onset is usually between 5 and 20 years [11,12,[19][20][21][22][23][24][25].…”

Section: Introductionmentioning

confidence: 99%

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A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes

et al. 2020

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Background: Primary coenzyme Q10 (CoQ10) deficiency of genetic origin is one of a few treatable focal segmental glomerulosclerosis (FSGS). Renal morphologic evidence for COQ8B mutation and CoQ10 deficiencies of other gene mutations is assessed using electron microscopy with marked increase of abnormal-shaped mitochondria in podocytes. However, light microscopic morphologic features of deficiencies other than FSGS have not been reported. Case presentation: A 30-year-old woman was admitted to our hospital because proteinuria was found during four consecutive medical checkups. She had no medical history or family history of proteinuria and severe renal dysfunction. The swollen podocytes were stained to the same extent as mitochondria-rich proximal tubular cells under both Masson's trichrome and hematoxylin-eosin staining, whereas no mitochondrial abnormalities were detected under the first electron microscopic views. As proteinuria and estimated glomerular filtration rate (eGFR) deteriorated after pregnancy, we reevaluated the additional electron microscopic views and detected mitochondrial abnormalities. Genetic testing revealed COQ8B mutation (c.532C > T, p.R178W); therefore, we diagnosed COQ8B nephropathy. CoQ10 supplementation improved proteinuria and stopped eGFR reduction. Conclusions: This is the first report of granular swollen podocytes due to mitochondrial diseases detected under light microscopy. We propose that this finding can be the clue for the diagnosis of both COQ8B nephropathy and the other CoQ10 deficiencies.

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“…Considering the hidden onset, rapid progression and poor prognosis of the disease, especially with ESRD as the outcome, early diagnosis plays an essential role in terminating disease progression by Coenzyme Q10 (CoQ10) supplementation at the early stage [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review

et al. 2020

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Background Herein, a 3-year-old boy presented with hidden-onset isolated proteinuria was reported. The disease was induced by COQ8B (previously termed ADCK4) compound heterozygous variants, including c.[271C > T] and c.[737G > A], which were inherited from his father and mother, respectively. Case presentation The patient visited our clinic due to non-nephrotic range proteinuria for 3 months, but no obvious abnormality was detected in the vital signs or laboratory test results. Renal histopathology revealed mitochondrial nephropathy, which manifested as mild glomerular abnormalities under light microscope, together with mitochondrial proliferation and hypertrophy and crowded arrangement under electron microscope. As suggested by whole exome sequencing, the patient inherited the COQ8B compound heterozygous variants from both of his parents who showed normal phenotype. After literature review, it was confirmed that one of the variant site (c.[271C > T]) had not been reported among the East Asian populations so far. Conclusions Steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis are the most common phenotypes and renal histopathological manifestations of COQ8B variant. Nonetheless, our case shows that such variant may have hidden and mild clinical manifestations at the early onset. Therefore, early diagnosis will help to identify children at the early disease stage who have opportunity to benefit from oral coenzyme Q10 supplementation.

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Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at <i>NPHS1</i> and <i>ADCK4</i> genes in two Chinese siblings

Cited by 10 publications

References 25 publications

Clinical syndromes associated with Coenzyme Q10 deficiency

Clinical syndromes associated with Coenzyme Q10 deficiency

A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes

Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review

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