Heavy chain disease

Heavy chain disease

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 442
DiseasesDB_mult = DiseasesDB2|32226 | ICD10 = ICD10|C|88|1|c|81-ICD10|C|88|2|c|81
ICD9 = ICD9|273.2
ICDO =
OMIM =
MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 958
eMedicine_mult = eMedicine2|med|959
MeshID = D006362

Heavy chain disease is a form of paraproteinemia with a proliferation of heavy chains.cite web |url=http://www.merck.com/mmhe/sec14/ch175/ch175e.html |title=Heavy Chain Diseases: Plasma Cell Disorders: Merck Manual Home Edition |accessdate=2008-02-29 |format= |work=]

This disease is characterized by an excessive production of immunoglobulin heavy chains that are short and truncated. The amino acid sequence on the amino terminal is completely normal, but there is a deletion in the protein structure that extends from the middle of the variable region, through the first domain of the constant region, and ending just before the position of the first disulfide bond between the two heavy chains. This deletion causes the heavy chains to lose the ability to form disulfide bonds with the light chains. The defect in the immunoglobulins arises during the faulty coupling of the variable and constant regions during somatic recombination.

Classification

There are three forms: [GPnotebook|1127546908]
* alpha chain diseasecite journal |author=Fakhfakh F, Dellagi K, Ayadi H, "et al" |title=Alpha heavy chain disease alpha mRNA contain nucleotide sequences of unknown origins |journal=Eur. J. Immunol. |volume=22 |issue=11 |pages=3037–40 |year=1992 |pmid=1425927 |doi=]
* gamma chain diseasecite journal |author=Wahner-Roedler DL, Witzig TE, Loehrer LL, Kyle RA |title=Gamma-heavy chain disease: review of 23 cases |journal=Medicine (Baltimore) |volume=82 |issue=4 |pages=236–50 |year=2003 |pmid=12861101 |doi=10.1097/01.md.0000085058.63483.7f |url=http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0025-7974&volume=82&issue=4&spage=236]
* mu chain diseasecite journal |author=Wahner-Roedler DL, Kyle RA |title=Mu-heavy chain disease: presentation as a benign monoclonal gammopathy |journal=Am. J. Hematol. |volume=40 |issue=1 |pages=56–60 |year=1992 |pmid=1566748 |doi=]

IgA/αHCD

The most common type of heavy chain disease is the IgA type, known as αHCD. This is because the most common immunoglobulin in the body is IgA. The most common type of αHCD is the digestive form, however it has also been reported in the respiratory tract, and other areas of the body.cite journal |author=Wahner-Roedler DL, Kyle RA |title=Heavy chain diseases |journal=Best Pract Res Clin Haematol |volume=18 |issue=4 |pages=729–46 |year=2005 |pmid=16026747 |doi=10.1016/j.beha.2005.01.029]

IgG/γHCD

IgM and IgG heavy chain diseases, which are known as μHCD and γHCD respectively, are fairly common and are present in various tissues. ]

The γHCD can be divided into three categories based on the various clinical and pathological features. These categories are disseminated lymphoproliferative disease, localized proliferative disease and no apparent proliferative disease.

* Disseminated lymphoproliferative disease is found in 57-66% of patients diagnosed with γHCD. Lymphadenopathy and constitutional symptoms are the usual features.cite journal |author=Fermand JP, Brouet JC, Danon F, Seligmann M |title=Gamma heavy chain "disease": heterogeneity of the clinicopathologic features. Report of 16 cases and review of the literature |journal=Medicine (Baltimore) |volume=68 |issue=6 |pages=321–35 |year=1989 |pmid=2509855 |doi=]

* Localized proliferative disease is found in approximately 25% of γHCD patients. This is characterized by a localization of the mutated heavy chains in extramedullary tissue, or solely in the bone marrow. ]

* No apparent proliferative disease is seen in 9-17% of patients with γHCD, and there is almost always an underlying autoimmune disorder in these patients. ]

IgM/μHCD

The IgM type of heavy chain disease, μHCD, is often misdiagnosed as chronic lymphoid leukemia (CLL) because the two diseases are often associated with each other and show similar symptoms. ]

References


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Look at other dictionaries:

  • heavy chain disease — heavy chain disease. См. болезнь тяжелых цепей. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • heavy chain disease — heavy chain disease. = Franklin syndrome (см.). (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Heavy chain — A heavy chain is the large polypeptide subunit of a protein complex, such as a motor protein (e.g. myosin, kinesin, or dynein) or antibody (or immunoglobulin). A typical antibody is composed of two immunoglobulin (Ig) heavy chains and two Ig… …   Wikipedia

  • mu heavy chain disease — mu chain d …   Medical dictionary

  • alpha chain disease — alpha heavy chain disease the most common heavy chain disease, occurring predominantly in young adults in the Mediterranean area, and characterized by plasma cell infiltration of the lamina propria of the small intestine resulting in… …   Medical dictionary

  • gamma chain disease — gamma heavy chain disease a heavy chain disease occurring usually in elderly persons that clinically resembles a malignant lymphoma, with symptoms of lymphadenopathy, hepatosplenomegaly, and recurrent infections …   Medical dictionary

  • mu chain disease — the rarest heavy chain disease, found in patients with chronic lymphocytic leukemia, with symptoms of hepatomegaly and splenomegaly …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Immunoglobulin light chain — Schematic diagram of an typical antibody showing two Ig heavy chains (blue) linked by disulfide bonds to two Ig light chains (green). The constant (C) and variable (V) domains are shown …   Wikipedia

  • immunoproliferative small intestine disease — (IPSID) the gastrointestinal form of alpha chain disease, characterized by diarrhea, malabsorption, abdominal pain, clubbing, plasma cell infiltration of the lamina propria of the small bowel, and presence of an abnormal alpha heavy chain… …   Medical dictionary

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