Association of endothelial nitric oxide synthase gene polymorphism with the risk of Henoch-Schönlein purpura/Henoch-Schönlein purpura nephritis

Zhong, Weide; Zhou, Tian-Biao; Jiang, Zongpei

doi:10.3109/0886022x.2014.1000802

Cited by 7 publications

(2 citation statements)

References 10 publications

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“…While no genetic base has been suggested before for the FSD, recent studies evidenced a possible association between some genetic polymorphisms and the HSP. These polymorphisms are for example located in genes coding renin-angiotensin-system (RAS) components, endothelial nitric oxide synthases, Inter-Cellular Adesion Molecule 1, and Vascular Endotelial Growth Factor [10][11][12][13][14]. Also, MEFV, the gene responsible for the Familial Mediterranean Fever, could be a candidate gene for HSP [15][16][17].…”

Section: Resultsmentioning

confidence: 99%

Whole Exome Sequencing Revealed a Candidate Gene for Finkelstein-Seidlmayer Disease

Bronz¹,

Gabriel²,

Lava³

et al. 2019

AJP

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Background: Finkelstein-Seidlmayer disease (FSD) is a benign cutaneous small-vessel leukocytoclastic vasculitis syndrome, which normally affects children between 2-60 months in a male-to-female ratio of 2:1. Skin lesions may appear as papules, erythematous macules, or urticaria. They are symmetric, sharp-edged and favouring the face, ears and extremities. Frequently they are targetoid, annular, medallion-like, or cockade. Fever and extracutaneous involvement are rare and spontaneous resolution occurs in 1-3 weeks. Case Information: In 2015, we reported a familial occurrence of FSD. Patients described in that article were the mother and all her three sons. All of them had a history of recurrent and relapsing nonthrombocytopenic, red-to-purpuric skin lesions, with a neonatal-onset. There was no systemic involvement. Anamnestic data revealed that maternal aunt, cousin and grandmother had also a positive history of neonatal onset of an acute cockade purpura and oedema. At that time, we suspected a genetic form of FSD with an autosomal dominant transmission or X-linked inheritance and incomplete penetrance. Method and Results: Blood samples were obtained from all available family members and a whole exome sequencing (WES) was performed on various affected and non-affected members of this family. The genetic analysis identified a common new mutation in the HCK gene. Conclusion: Up now, FSD is considered a sporadic disease and no genetic researches have been published on affected patients. We performed WES on a previously reported familiar case of FSD and the result was a common mutation in HCK gene. We found out the mutation on all the analysed affected and obligate-carrier members of the family. HCK gene encodes for a hematopoietic cell kinase protein, which is a member of the SRC family of cytoplasmic tyrosine kinases (SFK). We propose that HCK gene could be a candidate gene in the pathophysiology of some types of FSD. We also discuss the autosomal dominant transmission and incomplete penetrance of these specific types of disease.

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Section: Resultsmentioning

confidence: 99%

Whole Exome Sequencing Revealed a Candidate Gene for Finkelstein-Seidlmayer Disease

Bronz¹,

Gabriel²,

Lava³

et al. 2019

AJP

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“…Studies have found that the incidence of HSPN fluctuates between 20% and 80% [ 13 , 14 ]. Renal failure occurs in approximately 1%-12% patients with HSPN [ 15 ]. Previous studies have found that the incidence of HSPN is higher in the winter and spring, and is higher in men than in women, and this disease is most probably triggered by infection, which is in line with the findings of this study [ 16 , 17 ].…”

Section: Discussionmentioning

confidence: 99%

Henoch-schonlein purpura nephritis with renal interstitial lesions

Liu

Wang

et al. 2018

Open Medicine

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AbstractObjectiveTo investigate the clinical pathology and prognosis & outcome of Henoch-Schonlein purpura nephritis (HSPN) with renal interstitial lesions.MethodsAll 148 patients were analyzed for clinical, renal pathological, and prognostic features. Patients with no, mild, and moderate- severe renal tubulo-interstitial lesions were included in group A, B and C, respectively.ResultsThe estimated glomerular filtration rate (eGFR) of group B was significantly lower than that of group A. The levels of serum creatinine and blood urea nitrogen in group C were significantly higher than those in groups A and B. Clinical type II was correlated with pathological types II and IIIa; pathological type IV and IIIb were correlated with clinical type VI and IV. There were significant differences in the level of red blood cells in urinary sediment, levels of urine occult blood and in the prognosis among the 3 groups.ConclusionClinically, Type II is the most common cause; pathologically, Type IIIa is more common. The severity of renal tubulo-interstitial lesions is positively correlated with a decline in renal function and GFR. There is a correlation between the severity of renal tubulo-interstitial lesions and the severity of hematuria. Most patients with HSPN have a good prognosis.

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Inducible nitric oxide synthase gene polymorphisms are associated with a risk of nephritis in Henoch-Schönlein purpura children

et al. 2017

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Our results support that iNOS polymorphisms are associated with the risk of HSP and may strongly contribute to the genetic basis of individual differences in the progression to nephritis among children with HSP in the Chinese Han population. What is Known: • The etiology of HSP is unknown, but the genetic factors may play an important role in the pathogenesis of HSP. • iNOS could contribute to the development and clinical manifestations of HSP, and this has not been studied extensively so far. What is New: • Our results support that iNOS polymorphisms not only are associated with HSP risk but also strongly contribute to the genetic basis of individual differences in the progression of HSP to nephritis among Chinese Han children.

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Association of endothelial nitric oxide synthase gene polymorphism with the risk of Henoch-Schönlein purpura/Henoch-Schönlein purpura nephritis

Cited by 7 publications

References 10 publications

Whole Exome Sequencing Revealed a Candidate Gene for Finkelstein-Seidlmayer Disease

Whole Exome Sequencing Revealed a Candidate Gene for Finkelstein-Seidlmayer Disease

Henoch-schonlein purpura nephritis with renal interstitial lesions

Inducible nitric oxide synthase gene polymorphisms are associated with a risk of nephritis in Henoch-Schönlein purpura children

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