Find information on thousands of medical conditions and prescription drugs.

Hunter syndrome

Hunter's syndrome is a mucopolysaccharide disease caused by an enzyme deficiency of iduronate-2-sulfatase (I2S). This is also called as mucopolysaccharoidosis Type II. It was first described by Scottish physician Charles A. Hunter (1873-1955) in 1917. more...

Home
Diseases
A
B
C
D
E
F
G
H
Hairy cell leukemia
Hallermann Streiff syndrome
Hallux valgus
Hantavirosis
Hantavirus pulmonary...
HARD syndrome
Harlequin type ichthyosis
Harpaxophobia
Hartnup disease
Hashimoto's thyroiditis
Hearing impairment
Hearing loss
Heart block
Heavy metal poisoning
Heliophobia
HELLP syndrome
Helminthiasis
Hemangioendothelioma
Hemangioma
Hemangiopericytoma
Hemifacial microsomia
Hemiplegia
Hemoglobinopathy
Hemoglobinuria
Hemolytic-uremic syndrome
Hemophilia A
Hemophobia
Hemorrhagic fever
Hemothorax
Hepatic encephalopathy
Hepatitis
Hepatitis A
Hepatitis B
Hepatitis C
Hepatitis D
Hepatoblastoma
Hepatocellular carcinoma
Hepatorenal syndrome
Hereditary amyloidosis
Hereditary angioedema
Hereditary ataxia
Hereditary ceroid...
Hereditary coproporphyria
Hereditary elliptocytosis
Hereditary fructose...
Hereditary hemochromatosis
Hereditary hemorrhagic...
Hereditary...
Hereditary spastic...
Hereditary spherocytosis
Hermansky-Pudlak syndrome
Hermaphroditism
Herpangina
Herpes zoster
Herpes zoster oticus
Herpetophobia
Heterophobia
Hiccups
Hidradenitis suppurativa
HIDS
Hip dysplasia
Hirschsprung's disease
Histoplasmosis
Hodgkin lymphoma
Hodgkin's disease
Hodophobia
Holocarboxylase...
Holoprosencephaly
Homocystinuria
Horner's syndrome
Horseshoe kidney
Howell-Evans syndrome
Human parvovirus B19...
Hunter syndrome
Huntington's disease
Hurler syndrome
Hutchinson Gilford...
Hutchinson-Gilford syndrome
Hydatidiform mole
Hydatidosis
Hydranencephaly
Hydrocephalus
Hydronephrosis
Hydrophobia
Hydrops fetalis
Hymenolepiasis
Hyperaldosteronism
Hyperammonemia
Hyperandrogenism
Hyperbilirubinemia
Hypercalcemia
Hypercholesterolemia
Hyperchylomicronemia
Hypereosinophilic syndrome
Hyperhidrosis
Hyperimmunoglobinemia D...
Hyperkalemia
Hyperkalemic periodic...
Hyperlipoproteinemia
Hyperlipoproteinemia type I
Hyperlipoproteinemia type II
Hyperlipoproteinemia type...
Hyperlipoproteinemia type IV
Hyperlipoproteinemia type V
Hyperlysinemia
Hyperparathyroidism
Hyperprolactinemia
Hyperreflexia
Hypertension
Hypertensive retinopathy
Hyperthermia
Hyperthyroidism
Hypertrophic cardiomyopathy
Hypoaldosteronism
Hypocalcemia
Hypochondrogenesis
Hypochondroplasia
Hypoglycemia
Hypogonadism
Hypokalemia
Hypokalemic periodic...
Hypoparathyroidism
Hypophosphatasia
Hypopituitarism
Hypoplastic left heart...
Hypoprothrombinemia
Hypothalamic dysfunction
Hypothermia
Hypothyroidism
Hypoxia
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

Definition

Hunter syndrome is a hereditary disease in which the breakdown of a mucopolysaccharide (a chemical that is widely distributed in the body outside of cells) is defective. This chemical builds up and causes a characteristic facial appearance, abnormal function of multiple organs, and in severe cases, early death.

Causes, incidence, and risk factors

Hunter syndrome is inherited as an X-linked recessive disease. This means that women carry the disease and can pass it on to their sons, but are not themselves affected.

Because girls have two X chromosomes, their normal X can provide a functioning gene even if their other X is defective. But because boys have an X and a Y, there is no normal X gene to fix the problem if the X is defective.

The metabolic abnormality that causes Hunter syndrome is a lack of the enzyme iduronate-2-sulfatase. In its absence, mucopolysaccharides collect in various body tissues, causing damage.

Affected children may develop an early-onset type (severe form) shortly after age 2 that causes a large skull, coarse facial features, profound mental retardation, spasticity, aggressive behavior, joint stiffness and death before age 20. A late-onset type (mild form) causes later and less severe symptoms.

Symptoms

Juvenile form (early-onset, severe form):

  • mental deterioration
  • severe to profound mental retardation
  • aggressive behavior
  • hyperactivity
  • short stature


Late (mild form):

  • mild to no mental retardation

Both forms:

  • coarse facial features
  • large head (macrocephaly)
  • stiffening of joints
  • increased hair (hypertrichosis)
  • deafness (progressive)
  • enlargement of internal organs such as liver and spleen
  • cardiovascular problems, especially valvular dysfunction
  • abnormal retina (back of the eye)
  • carpal tunnel syndrome

Signs and tests

Signs of the disorder that the doctor might look for include:

  • hepatomegaly (enlargement of liver)
  • splenomegaly (enlargement of spleen)
  • inguinal hernia
  • spasticity
  • heart murmur and heart valve dysfunction
  • joint contractures
  • excretion of heparan sulfate and dermatan sulfate in urine
  • decreased iduronate sulfatase enzyme activity in serum or cells

Tests that may indicate this disorder is present include:

  • urine for heparan sulfate and dermatan sulfate
  • enzyme study, decreased iduronosulfate sulfatase (may be studied in serum, white blood cells and fibroblasts)
  • genetic testing may show mutation in the iduronate sulfatase gene

Read more at Wikipedia.org


[List your site here Free!]


Drugs counteract irritable bowel syndrome - Brief Article
From Science News, 12/23/00 by N. Seppa

The holidays bring family and friends together for sumptuous feasts that make stomachs groan. For people suffering from irritable bowel syndrome (IBS), however, even small meals can have extremely distressing consequences. The condition causes abdominal pain, cramps, diarrhea, constipation, and bloating.

Of unknown cause, IBS is the most frequently diagnosed gastrointestinal ailment in the United States. It affects up to 35 million people here. Physicians often arrive at a diagnosis by ruling out other ailments, such as intestinal blockage, colon cancer, and thyroid problems. Treatments, ranging from Chinese herbs to antidepressants, have been largely limited to symptomatic relief. Now, researchers report that antibiotics knock out--at least temporarily--many of the bacteria that seem to be responsible for this condition.

The finding builds on earlier research suggesting a role in IBS for bacteria. In 1997, for instance, scientists in Bombay found that people with the condition improved markedly when given the antibiotic metronidazole. Other recent work, by British scientists, suggests that an overabundance of bacteria in the large intestine leads to excess fermentation, gas production, and an irritated bowel.

Gastroenterologist Mark Pimentel and his colleagues at Cedars-Sinai Medical Center and the University of California, Los Angeles suggest a slightly different scenario. They suspect that bacterial culprits spread backwards from the large intestine into the small intestine--which normally hosts relatively few bacteria--to cause the troublesome fermentation.

To diagnose whether people with irritable bowel syndrome have this bacterial overload, the researchers gave patients a special sugar syrup. People can't digest the syrup, but bacteria in the intestines break it down. Hydrogen produced by this bacterial reaction in the small intestine readily enters the blood stream and can be detected by a breathalyrzer test.

Of 202 people examined, the breath test revealed that 157 had an overload of bacteria in the small intestine.

The researchers then treated these patients with a 10-day course of antibiotics. The drugs had apparently eradicated the bacteria in the small intestines of 25 of the 47 people who came back for a second breath test. Among these 25 patients, irritable bowel symptoms had either disappeared or were greatly reduced, says Pimentel.

In the remaining 22 patients, the breath tests indicated the antibiotics killed only a portion of the bacteria. Even so, these patients improved significantly, Pimentel and his colleagues report in the December AMERICAN JOURNAL OF GASTROENTEROLOGY.

The status of many of the original pool of patients remains unknown because they didn't return for follow-up. Pimentel's research team is now conducting a larger study with breath tests on hundreds of patients before and after they receive either antibiotics or a placebo.

Gastroenterologist John O. Hunter of Addenbrooke's Hospital in Cambridge, England, rates the study as "interesting." However, he says that the work doesn't firmly establish that the hydrogen detected is being produced by bacteria in the small intestine rather than the large intestine.

He also notes that the lower gut harbors "a complex little ecosystem." Antibiotics can destroy valuable bacteria in the large intestine and throw the system off balance, Hunter cautions.

"We don't want people just to give antibiotics to everybody," Pimentel says. He acknowledges that wholesale killing of bacteria in the small intestine also zaps microbes in the large intestine. But these grow back within about 5 days, Pimentel says.

Some of the people who improved dramatically from the antibiotics, suffered relapses within a few months, he notes. For that reason, he and his colleagues don't yet consider antibiotics a cure for IBS.

Nevertheless, the findings could guide future research. Says Pimentel: "We think we've found a target."

COPYRIGHT 2000 Science Service, Inc.
COPYRIGHT 2001 Gale Group

Return to Hunter syndrome
Home Contact Resources Exchange Links ebay