1 5 cases of familial hematuria-based pedigree analysis of IgA nephropathy_3502

By Jamie Hunter,2014-10-30 07:27
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1 5 cases of familial hematuria-based pedigree analysis of IgA nephropathy_3502

1 5 cases of familial hematuria-based pedigree analysis of IgA


     Key Words gA nephropathy

     IgA nephropathy is a pathological diagnosis of immune name. As early as 70 years in the 20th century, someone noted that in the relatives of

    IgA nephropathy in a higher incidence of abnormal urine test. Early 80s were also reported 290 cases of British patients with IgA nephropathy in 3.8% had a family history of kidney disease [1]. IgA nephropathy is not associated with a group of systemic diseases, renal biopsy pathology in

    the immune mesangial district to granular deposition of IgA-based clinical

    practice with hematuria as the main performance of glomerular nephritis [2 ]. The incidence of IgA nephropathy in China accounted for 26% of

    glomerular diseases, 34%, a higher incidence of males, there is a certain degree of familial, more than one person in the same family illness, manifested as asymptomatic urinary abnormalities (experimental inspection hematuria or protein urine), recurrent gross hematuria or chronic renal

    insufficiency [3]. We report five cases of a house property of IgA nephropathy.

     A clinical data

     1.1 General Information

     From January 2002 to August 2007, five cases of hospital out-patient

    diagnosis and treatment of a urine-based patients, 2 males (father and

    son), 3 females (sisters). Big Sister in 2002 suffering from hematuria cause is unclear, poor efficacy, the latter due to ineffective treatment for uremia patient died at the age of 38. 36-year-old younger brother,

    renal insufficiency, hypertension, high proteinuria, hematuria, edema has been three years, the blood IgA-positive, after more than five years of

    western medicine in hospitals, there is repeated hematuria. Sanmei 34 years old, in 2006, due to uremia, proteinuria, hematuria, serum IgA-

    positive, Chinese herbal treatment for 4 years, I died. Simei (with Sanmei twin sister), renal failure, hematuria, blood pressure (140/96mmHg), serum

IgA negative, Chinese herbal treatment of the past five years, urine

    routine examination is still an exception (urine red blood cells 2 ~ 3, urine protein or 2). Younger brother's son, nine-year-old has repeatedly

    hematuria (urinary red blood cells 2 ~ 3, negative or trace urine protein), serum IgA-positive renal biopsy showed glomerular mesangial

    deposition of IgA immunoglobulin-based [4], in line with lgA nephropathy

    the diagnostic criteria, since June 2007 after diagnosis of traditional Chinese medicine date, but recently there are still hematuria (urinary red

    blood cell 2). Family history of the parents were alive, the three generations of paternal ancestors had no such history. Sick child without hematuria history of the mother, maternal grandparents denied a genetic history. The two sides have no ancestral history of consanguineous


     1.2 clinical symptoms

     5 cases of gross hematuria occurred in both, in addition to one cases of nine-year-old boy had yet to emerge outside of renal dysfunction and the rest have symptoms of uremia, two sisters who have died thus. 5 cases

    of familial hematuria mainly in patients with IgA nephropathy and other long-standing healthy family living in the same geographical environment, no special pollution in the surrounding countryside, denied a history of allergy and history of throat infection. Therefore, in the absence of other family members similar to the condition and blood lgA negative, early easily misdiagnosed. Reposted elsewhere in the paper for free download http://

     2 Discussion

     IgA nephropathy in our country is a higher incidence of glomerular disease, is also leading to end-stage renal failure occurs, one of the

    major diseases. Literature clearly shows that the disease in familial and hereditary, and the morbidity rate among men than women, my male to female

    ratio of about 3:1 [2]. Some scholars found that the incidence in some of the family who are mostly male, then put forward the X-linked recessive

    genetic potential [5]. Familial IgA nephropathy with all the relevant studies have prompted the genetic factors in IgA nephropathy occurs in familial aggregation of the key role of reason is: in many countries in Europe and Asia, and Australia have a number of familial aggregation of IgA nephropathy occurs reported that the likelihood of occasional small,

    and in the study did not find a common renal toxic substances [6]. IgA nephropathy in patients with abnormal levels of serum IgA may also occur in siblings, while members of other relatives living together does not necessarily increased [7]. 1985, Julian et al [8] reported an all lines of the 14 cases of IgA nephropathy patients, of which 6 cases were consanguineous marriage. The same research group further research shows that 80 cases of IgA nephropathy in 60% of the at least one of the relatives of IgA nephropathy [9]. This paper investigated the home was due to the treatment conditions, only children, but one cases of renal biopsy

    examination, even though some of the information due to the whole, but the combination of literature, according to the analysis of familial data to

    prove that genetic factors play an important role in IgA nephropathy.

     This information is collected for five years, five cases of a relative of IgA nephropathy patients were retrospectively analyzed to prove that indeed with familial IgA nephropathy and hereditary sex-

    related. This information shows the incidence of women than men were, this inconsistency with the literature, the reason may be dominant familial incidence of women than men, she then a line with the incidence of four

    sisters, men only, on behalf of a people, and two cases of male sons vertical genetic.

     IgA nephropathy with familial aggregation of a natural phenomenon, and the poor prognosis of familial IgA nephropathy and easy development of uremia. This information is in a 5 cases in 4 patients had uremic symptoms, 2 of them died one after another. Therefore, authors believe that, for all patients with IgA nephropathy should be asked in detail about family history, and make family members IgA urine examination and

    blood examination, renal biopsy or related conditions can be used for genetic determination with a view to early detection, early treatment to delay disease progression .


     1 Scolari F. Inherited forms of IgA nephropathy. J Nephrol, 2003, 16:317 ~ 320.

     2 HAN Yu. Haematuria-based familial cases of IgA nephropathy 5 l1 analysis of Chinese clinical medicine and practical magazine, 2004,20:76.

     3 Wang Haiyan editor of nephrology. Beijing: People's Health Publishing House, 1987. 708.719.

     4 Bi Zeng-qi, CHEN Yi-pu. IgA nephropathy Clinicopathological

    analysis of 40 cases, Chinese medicine magazines, 1984,23:136.

     5 Stepheni-Hong HSU, Sylvia B, Ramirez S, et al. Evidence for geneticfaeto ~ in the development and progression of IgA nephmpathy. Kidney International, 2000,57:1818 ~ 1835.

     6 Scolari F, Amomso A, Savoldi S, et al. Fam ilial clustering of 1 nephropathy: further evidence in all Italia. population. Am J Kidney Dis, 1999,3 (5): 857 ~ 865.

     7 Scolari F. Familial IgA nephropathy. J Nephrol, 1999, 12: 2119.

     8 Julian BA, Quiggins PA, Thompson JS, et a1. Familial IgA

    nephropathy-evidenee of an inherited mechanism of disease. N Engl J Med, 1985,312:202 ~ 208. Reposted elsewhere in the paper for free download http://

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