Familial Occurrence of Renal and Intestinal Disease Associated With Tissue Autoantibodies

Ellis, Demetrius

doi:10.1001/archpedi.1982.03970400041013

Cited by 20 publications

(34 citation statements)

References 22 publications

(1 reference statement)

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“…Thus, IPEX syndrome is characterized by a wide spectrum of clinically manifested autoimmune diseases. It has been reported that membranous nephropathy and tubulointerstitial damage are also associated with IPEX [11][12][13]. So far as we could determine, however, there have been no reports on patients who had developed MCNS complicated by IPEX syndrome.…”

Section: Discussionmentioning

confidence: 82%

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

et al. 2009

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Several studies have suggested that T cell-producing permeability factors might lead to proteinuria in minimal change nephrotic syndrome (MCNS). However, it is still unclear whether T-cell abnormalities cause MCNS. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder of the immune regulation system, which leads to severe autoimmune phenomena including autoimmune enteropathy, atopic dermatitis with high levels of serum immunoglobulin E (IgE), type 1 diabetes mellitus (T1DM), and severe infection such as sepsis, which frequently result in death within the first 2 years of life. This disease is caused by mutations in the FOXP3 gene that result in the defective development of regulatory T (Treg) cells. This report describes a 5-year-old boy with IPEX syndrome with a 3 bp deletion in the FOXP3 gene (c.748-750delAAG, p.250K.del) and a paucity of CD4(+) CD25(+) FOXP3(+) T cells. The boy's condition was complicated by MCNS in addition to many IPEX-related manifestations, such as atopic dermatitis, T1DM, enteropathy, sepsis and hemolytic anemia. This is the first report of IPEX syndrome complicated by MCNS, and our findings imply that Treg cell dysfunction may be crucial for the development of MCNS.

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Section: Discussionmentioning

confidence: 82%

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

et al. 2009

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“…A familial pattern has been recognized [5,8]. The overall preponderance of males with this syndrome would be consistent with a genetic disorder linked to the X chromosome.…”

Section: Discussionmentioning

confidence: 80%

“…Elevated serum IgE levels have been reported in 1 patient [5]. T lymphocyte function studies have not been previously reported.…”

Section: Discussionmentioning

confidence: 90%

“…Colletti et al [16] reported a male infant with membranous nephropathy and autoimmune enteropathy who did not have anti-TBM antibodies. Ellis et al [5] described a second case in a male infant, who was a maternal cousin of the first case, with anti-TBM antibodies and enteropathy, who did not have membranous nephropathy.…”

Section: Discussionmentioning

confidence: 99%

“…The renal disease usually progresses to chronic renal failure [4]. Extrarenal disorders, such as enteropathy with intractable diarrhea [4,5,10] and pulmonary hemorrhage [2], have been reported in some cases. This paper reports clinical, pathological, and immunological findings in a young male patient with autoimmune interstitial nephritis and membranous nephropathy.…”

Section: Introductionmentioning

confidence: 99%

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The syndrome of autoimmune interstitial nephritis and membranous nephropathy

et al. 1997

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A 2-year-old male patient was evaluated for Fanconi syndrome with hypertension and failure to thrive. Renal biopsy revealed autoimmune interstitial nephritis with membranous nephropathy. The patient developed autoimmune hemolytic anemia and intractable diarrhea with villous atrophy of the jejunum. He progressed to end-stage renal disease and was transplanted without recurrent disease. Immune work-up done prior to immunosuppressive therapy showed marked elevation of IgE. Studies of T lymphocyte cytokine production showed normal production of interleukin-4 but depressed levels of interferon-gamma. The simultaneous occurrence of autoimmune interstitial nephritis and membranous nephropathy in a young male represents a unique syndrome. Abnormalities of T lymphocyte subpopulations and their cytokines may be involved in the pathogenesis of this disorder.

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Syndrome of Intractable Diarrhoea with Persistent Villous Atrophy in Early Childhood: A Clinicopathological Survey of 47 Cases

Goulet,

Brousse,

Canioni

et al. 1998

J. pediatr. gastroenterol. nutr.

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Background:The syndrome of intractable diarrhoea of infancy is heterogeneous and includes several diseases with diverse aetiologies. This study determines whether diagnostic categories can be defined on the basis of clinicopathological analysis.Methods:European Society of Paediatric Gastroenterology, Hepatology and Nutrition members were surveyed to identify cases of intractable diarrhoea with persisting small intestinal enteropathy. A retrospective clinicopathological analysis was performed on cases showing life‐threatening diarrhoea within the first 24 mo of life and requiring total parenteral nutrition, which were characterized by persistent villous atrophy, and resistance to therapy.Results:Forty‐seven infants were identified with intractable diarrhoea. Villous atrophy was of varying degrees with (group I, n = 24) or without(group II, n = 18) lamina propria mononuclear cell infiltration. Group I presented later, had gut auto‐antibodies, and a higher prevalence of protein‐losing enteropathy; a subset (group Ia, n = 12) also had extraintestinal symptoms of autoimmunity associated with a later onset of larger volume diarrhoea. Group II presented early; 8 cases (group IIa) had phenotypic abnormalities and a low birth weight; the remaining 10 (group IIb) showed mild‐to‐moderate villous atrophy, epithelial tufting, and abnormal crypts. Group III included five patients in whom no specific features were recognised. Twenty‐one (45%) died at a median age of 24 months, 20 (43%) remained dependent on parenteral (n = 16) or enteral tube(n = 4) feeding, 4 (9%) received elimination diets plus other therapies, and 2 (4%) were lost to follow‐up.Conclusions:Clinicopathological analysis allowed distinct disease groups to be identified, allowing a provisional classification to be made. This straightforward approach forms a basis for future research in this exceptionally difficult paediatric condition.

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Familial Occurrence of Renal and Intestinal Disease Associated With Tissue Autoantibodies

Cited by 20 publications

References 22 publications

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

The syndrome of autoimmune interstitial nephritis and membranous nephropathy

Syndrome of Intractable Diarrhoea with Persistent Villous Atrophy in Early Childhood: A Clinicopathological Survey of 47 Cases

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