PMID- 19189134
OWN - NLM
STAT- MEDLINE
DCOM- 20090914
LR  - 20220309
IS  - 1432-198X (Electronic)
IS  - 0931-041X (Linking)
VI  - 24
IP  - 6
DP  - 2009 Jun
TI  - Minimal change nephrotic syndrome associated with immune dysregulation, 
      polyendocrinopathy, enteropathy, X-linked syndrome.
PG  - 1181-6
LID - 10.1007/s00467-009-1119-8 [doi]
AB  - 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.
FAU - Hashimura, Yuya
AU  - Hashimura Y
AD  - Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, 
      Japan.
FAU - Nozu, Kandai
AU  - Nozu K
FAU - Kanegane, Hirokazu
AU  - Kanegane H
FAU - Miyawaki, Toshio
AU  - Miyawaki T
FAU - Hayakawa, Akira
AU  - Hayakawa A
FAU - Yoshikawa, Norishige
AU  - Yoshikawa N
FAU - Nakanishi, Koichi
AU  - Nakanishi K
FAU - Takemoto, Minoru
AU  - Takemoto M
FAU - Iijima, Kazumoto
AU  - Iijima K
FAU - Matsuo, Masafumi
AU  - Matsuo M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090203
PL  - Germany
TA  - Pediatr Nephrol
JT  - Pediatric nephrology (Berlin, Germany)
JID - 8708728
RN  - 0 (FOXP3 protein, human)
RN  - 0 (Forkhead Transcription Factors)
RN  - 0 (Immunosuppressive Agents)
RN  - 0 (Interleukin-2 Receptor alpha Subunit)
RN  - 83HN0GTJ6D (Cyclosporine)
RN  - 9007-49-2 (DNA)
RN  - X4W7ZR7023 (Methylprednisolone)
SB  - IM
MH  - CD4-Positive T-Lymphocytes/metabolism
MH  - Child, Preschool
MH  - Cyclosporine/therapeutic use
MH  - DNA/genetics/isolation & purification
MH  - Forkhead Transcription Factors/genetics/immunology
MH  - Gene Deletion
MH  - *Genetic Diseases, X-Linked/genetics/immunology
MH  - Humans
MH  - Immunosuppressive Agents/therapeutic use
MH  - Interleukin-2 Receptor alpha Subunit/metabolism
MH  - Male
MH  - Methylprednisolone/therapeutic use
MH  - Nephrotic Syndrome/*complications/prevention & control
MH  - *Polyendocrinopathies, Autoimmune/genetics/immunology
MH  - *Protein-Losing Enteropathies/genetics/immunology
MH  - Secondary Prevention
MH  - Sequence Analysis, DNA
MH  - T-Lymphocytes, Regulatory/immunology
MH  - Treatment Outcome
EDAT- 2009/02/04 09:00
MHDA- 2009/09/15 06:00
CRDT- 2009/02/04 09:00
PHST- 2008/11/03 00:00 [received]
PHST- 2009/01/05 00:00 [accepted]
PHST- 2009/01/05 00:00 [revised]
PHST- 2009/02/04 09:00 [entrez]
PHST- 2009/02/04 09:00 [pubmed]
PHST- 2009/09/15 06:00 [medline]
AID - 10.1007/s00467-009-1119-8 [doi]
PST - ppublish
SO  - Pediatr Nephrol. 2009 Jun;24(6):1181-6. doi: 10.1007/s00467-009-1119-8. Epub 2009 
      Feb 3.