Antithyroid Antibodies in Alport's Syndrome

Miyoshi, Kazuo; Suzuki, Muneo; Ohno, Fumitoshi; Yamano, Toshinao; Yagi, Fumikazu; Khono, Hisayuki

doi:10.1016/s0140-6736(75)90549-8

Cited by 14 publications

(6 citation statements)

References 2 publications

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“…The AS group showed significantly higher antithyroid antibody levels than the other 2 groups. Miyoshi et al 3) reported that antithyroid antibody levels were higher in patients with AS than in a healthy control group. However, Savige et al 4) measured antithyroid and antiadrenal autoantibodies in patients with antiglomerular basement membrane disease, thin basement membrane disease, and AS.…”

Section: Discussionmentioning

confidence: 99%

“…There are prior reports of thyroid dysfunction in white subjects with a confirmed diagnosis of AS. 2,3) De Marchi and Cecchin 2) measured antithyroid antibody levels in the blood of patients with AS in 3 households. Antithyroid antibody levels were compared to a healthy control group, a dialysis patient group, and an AS group.…”

Section: Discussionmentioning

confidence: 99%

“…The relationship between thyroid disease and AS has rarely been reported, and there is no evidence regarding the relationship among Asians. [2][3][4][5] There are 2 types of hypothyroidism: congenital hypothyroidism (CH) and acquired (autoimmune) hypothyroidism. The main cause of primary CH is thyroid dysgenesis, 6) while autoimmune thyroiditis is the most common cause of acquired hypothyroidism.…”

Section: Introductionmentioning

confidence: 99%

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An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism

Lee

Moon

Lee

et al. 2020

Ann Pediatr Endocrinol Metab

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Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this relationship is under debate. Prolonged untreated hypothyroidism induces short stature, abnormal pubertal development, and various other symptoms. However, children with long-standing hypothyroidism rarely present with signs of precocious puberty, or Van Wyk-Grumbach syndrome (VWGS). We report the case of a boy, 8 years and 4 months old, who had VWGS caused by prolonged untreated congenital hypothyroidism and AS. The boy had repeated gross hematuria and proteinuria and was diagnosed with AS by renal biopsy and genetic testing. He had normal renal function but severe growth retardation and hypothyroidism. Obesity, bone age delay, hyperlipidemia, and abnormal increased testicle size were also present due to prolonged untreated hypothyroidism. His thyroid antibody titer elevation was unclear, although ultrasonography and thyroid scanning showed a decrease in thyroid volume. We diagnosed the patient with congenital hypothyroidism caused by thyroid dysgenesis. VWGS was diagnosed due to hypothyroidism, delayed bone age, and pseudoprecocious puberty. To the best of our knowledge, this is the first report of a prepubertal Korean boy with prolonged untreated congenital hypothyroidism complicated by VWGS in AS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism

Lee

Moon

Lee

et al. 2020

Ann Pediatr Endocrinol Metab

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“…HLA-class II antigens are usually associated with diseases presenting underlying immunopathogenetic mechanisms, such as rheumatoid arthritis and insu- 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 7 8 9 1 2 3 4 5 6 tive immunofluorescence microscopic findings in kidney biopsies from Alport's patients, some studies have shown granular deposits of C3, IgM, IgG and C4 within the mesangium and vascular pole, and along the glomerular capillary walls (2,4,5). Other immunological abnormalities include normal or low levels of serum complement, elevated excretion of C3 polypeptide fragments in urine, presence of antithyroid antibodies, decreased levels of plasma and secretory IgA, and increased frequency of allergic diseases (4,13,14). Whether Alport's syndrome has an autoimmune background, or immunological abnormalities are secondary to inherited defects are questions to be answered.…”

Section: Discussionmentioning

confidence: 99%

Association of Alport's syndrome with HLA-DR2 antigen in a group of unrelated patients

Donadi¹,

Voltarelli²,

Paula-Santos³

et al. 1998

Braz J Med Biol Res

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A few family studies have evaluated HLA antigens in Alport's syndrome; however, there are no large population studies. In the present report, we studied 40 unrelated white patients with Alport's syndrome seen at the Unit of Renal Transplantation, Faculty of Medicine of Ribeirão Preto, São Paulo, Brazil. HLA-A, -B, -DR and -DQ antigens were typed using a complement-dependent microlymphocytotoxicity assay. A control white population (N = 403) from the same geographical area was also typed for HLA antigens. Although the frequencies of HLA-A and -B antigens of patients were not statistically different from controls, the frequency of HLA-DR2 antigen observed in patients (65%) was significantly increased in relation to controls (26%; P<0.001). The relative risk and etiologic fraction for HLA-DR2 antigen were 5.2 and 0.525, respectively. Although few immunological abnormalities have been shown in Alport's syndrome, in this report we emphasize the association of HLA molecules and Alport's syndrome. Besides the well-known inherited molecular defects encoded by type IV collagen genes in Alport's syndrome, the major histocompatibility alleles may be in linkage disequilibrium with these defective collagen genes.

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“…[2] did not mention any in 58 cases of Alport's syndrome. Only Miyoshi et al [3] have reported two families with antithyroid antibodies.…”

mentioning

confidence: 99%

Association between Alport’s Syndrome and Familial Goiter

Gayno¹,

Savoie²

1983

Nephron

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Antithyroid Antibodies in Alport's Syndrome

Cited by 14 publications

References 2 publications

An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism

An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism

Association of Alport's syndrome with HLA-DR2 antigen in a group of unrelated patients

Association between Alport’s Syndrome and Familial Goiter

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