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Viewer Question:
What is a pediatric rheumatologist?

Doctor's Response:
A pediatric rheumatologist is a physician who specializes in providing comprehensive care to
children (as well as their families) with rheumatic diseases, especially arthritis.
Pediatric rheumatologists are pediatricians who have completed an additional 2-3 years of
specialized training in pediatric rheumatology and are usually board-certified in pediatric
rheumatology.
Pediatric rheumatologists are specifically trained to be highly skilled in: 1) various possible
diagnoses of children and adolescents, 2) efficient use of tools and tests for diagnosis in children
and adolescents, 3) selecting the most appropriate therapy (including other consultations) for
children and adolescents with rheumatic diseases, 4) monitoring long-term therapy for
effectiveness and side effects unique to children and adolescents, 5) achieving favorable
outcomes in terms of control of rheumatic diseases and prevention of disability, 6) coordinating
care for children and adolescents with multisystem diseases, and 7) dealing with chronically ill
children, adolescents, and their families.
Pediatric rheumatologists have special interests in unexplained rash, fever, arthritis, anemia,
weakness, weight loss, fatigue, muscle pain, autoimmune disease, and anorexia. They have
particular skills in the evaluation of juvenile arthritis, spondylitis, systemic lupus erythematosus,
antiphospholipid syndrome, dermatomyositis, Sjogren's syndrome, vasculitis, scleroderma, mixed
connective tissue disease, sarcoidosis, Lyme disease, osteomyelitis, relapsing polychondritis,
Henoch-Schonlein purpura, serum sickness, reactive arthritis, Kawasaki's disease, fibromyalgia,
erythromelalgia, Raynaud's disease, growing pains, iritis, and osteoporosis in children.
This information was condensed from a Statement of the American College of Rheumatology,
published in Arthritis Care and Research 12: 48-51, 1999.

Definition of Urinary tract infection in children

Urinary tract infection in children: Infection of the kidney, ureter, bladder, or urethra in a child.
About 3% of girls and 1% of boys have had a recognized urinary tract infection (UTI) by age 11.
The symptoms are not always obvious. They may range from just an unusual smell of the urine or
mild burning on urination to very severe pain and high fever. Recognizing and treating urinary
tract infections is important. A urinary tract infection in a child may be a sign of an abnormality in
the urinary tract that could lead to repeated problems and serious kidney damage.
Younger children are usually unable to describe how they feel. They may have fever, be irritable,
have nausea and vomiting, or not eat. An older child with bladder irritation may complain of pain
in the abdomen and pelvic area. The child may urinate often. If the kidney is infected, the child
may complain of pain in the flank or low back. Crying or complaining that it hurts to urinate and
producing only a few drops of urine at a time are other signs of urinary tract infection. The child
may have difficulty controlling the urine and may leak urine into clothing or bedsheets. The urine
may smell unusual or look cloudy. If a child has a temperature and appears sick for more than a
day without signs of a runny nose or other obvious cause for discomfort, he or she may need to
be checked for a urinary infection.
The diagnosis is confirmed by examining a sample of the child's urine under a microscope for
bacteria and white blood cells. The urine may also be cultured identify the bacteria and test to see
which medications will provide the most effective treatment. The treatment is with antibiotics.
Once culture results are known, the child may be switched to another antibiotic. After a few doses
of the antibiotic, the child may appear much better, but often several days may pass before all

symptoms are gone. The child should take the medicine for as long as the doctor says. Do not
stop medications because the symptoms have gone away. Infections may return, and the bacteria
may resist future treatment if the drug is stopped too soon.
After the infection has cleared, tests may be done to check for abnormalities in the urinary tract.
The tests may include kidney and bladder ultrasound, a voiding cystourethrogram (VCUG), an
intravenous pyelogram (IVP), or a nuclear scans with a radioactive material to show how well the
kidneys work, the shape of the kidneys, and whether urine empties from the kidneys in a normal
way. Many children who get urinary tract infections have normal kidneys and bladders. But if a
child has an abnormality of thre urinary tract, it should be detected as early as possible in life to
protect the kidneys against damage. Abnormalities can include vesicoureteral reflux (urine
refluxing backwards from the bladder up the ureters to the kidneys) and urinary blockage. This
can occur in many places in the urinary tract. The ureter or urethra may be too narrow or a kidney
stone at some point stops the urinary flow from leaving the body. Or the ureter may join the
kidney or bladder at the wrong place and prevent urine from leaving the kidney in the normal way.
Young children are at the greatest risk for kidney damage from urinary tract infections if they have
an undetected urinary tract abnormality or if their UTIs are not recognized and treated effectively.

Definition of Otolaryngology
Otolaryngology: A medical and surgical specialty concerned with the diagnosis, management,
and treatment of diseases and disorders of the ear, nose, throat (ENT) and related structures of
the head and neck, including the sinuses, larynx (voice box), oral cavity, and upper pharynx
(mouth and throat). Subspecialty areas within otolaryngology include pediatric otolaryngology
(children), otology/neurotology (ears, balance, and tinnitus), allergy, facial plastic and
reconstructive surgery, head and neck, laryngology (throat), and rhinology (nose). Some
otolaryngologists limit their practices to one or more of these seven areas. Otolaryngology is
commonly called ENT. It is the oldest medical specialty in the US.

Definition of Osteopetrosis
Osteopetrosis: Thickening of the bones which become abnormally dense due an inherited
defect in bone resorption -- the process in which old bone is broken down and removed so that
new bone can be added to the skeleton. Osteoclasts are the cells responsible for bone
resorption. In osteopetrosis the osteoclasts do not perform normally. This flaw in bone resorption
results in bones that are abnormally dense, yet are fragile and easily broken. Men and women
are equally affected by the disease.
The increased bone mass in individuals with osteopetrosis can limit the amount of available
space within the bone marrow. Since the bone marrow is responsible for the production of blood
cells, impaired bone marrow function can produce several clinical problems. For example,
interference with red blood cell production can lead to anemia. Impairment of white blood cell
production can limit the body's ability to fight infection. When platelet production is suppressed,
individuals are prone to bleeding since platelets are essential for clotting blood. Anemia, infection,
and bleeding are just some of the symptoms that individuals with osteopetrosis can experience
--blindness, deafness and even stroke can occur when the skeleton is so dense that blood
vessels and nerves cannot pass through the bones.
Three major types of osteopetrosis have been identified:

Malignant infantile form -- this disease is usually discovered in the first months of life.
Hence the term "infantile." The children have the full disease and, in addition, they may
have significant delays in psychomotor and tooth development. This form of the disease
can be severe, often resulting in death during the first decade of life. This disease is

inherited as an autosomal recessive trait -- so brothers and sisters of a patient are each
at 25% risk to have the same disease. The gene has been found on chromosome 11 in
region 11q13.4-q13.5 and is a mutation in what is called the TCIRG1 subunit of the
vacuolar proton pump.

Adult form -- this form is milder and more benign than the infantile form. It generally does
not alter life expectancy. Many of the individuals with it have few or no symptoms. It is
inherited from generation to generation as an autosomal dominant trait. Males and
females with it have a 50% chance of transmitting the gene to each of their children. The
gene is on chromosome 1 in region 1p21.

Intermediate form-- this type of the disease is found in children younger than 10. It tends
to be less severe than the malignant infantile form, but more severe than the adult form.
Individuals with this type of osteopetrosis generally do not have a reduced life
expectancy.

The diagnosis of osteopetrosis is usually made when dense bones are discovered on x-rays. A
bone biopsy can confirm the presence of the disease. Confirming the specific subtype of the
disease is important so that individuals can receive the most appropriate treatment.
Various therapies have been used in the treatment of osteopetrosis. The US Food and Drug
Administration (FDA) has approved Actimmune (interferon gamma-1b) for delaying disease
progression in patients with severe malignant osteopetrosis. Actimmune is the only therapy
approved specifically for the treatment of osteopetrosis. Adult and pediatric patients may benefit.
In addition to the approved indication, there is also strong evidence to suggest that Actimmune
reduces the chance for serious infection in osteopetrosis.
Bone marrow transplantation (BMT) allows the abnormal osteoclasts to be replaced with normal
cells. BMT is the only approach that has resulted in a cure of the malignant infantile form of the
disease. BMT replaces the abnormal osteoclasts with normal cells, curing the defect if the
transplantation, or engraftment, is successful. Because of its high failure rate and because of its
side-effects, BMT tends to be reserved for only the most severe cases of osteopetrosis. The
survival rate after BMT in children with osteopetrosis is 40 to 70 % depending on how well
matched the donor is to the patient. Young human leukocyte antigen-matched siblings provide
marrow with the best chance for engraftment and cure of osteopetrosis.
High doses of Calcitrol (the active form of vitamin D) have been used to stimulate osteoclast
function in individuals with osteopetrosis. Calcitrol has been shown to significantly reduce
symptoms in people who have mild or severe forms of the disease, though it is not approved by
the FDA for this purpose.
Large doses of glucocorticoid drugs (such as prednisone) may be given for short periods of time
to patients with impaired red blood cell or platelet production. Prednisone improves blood counts
in patients with anemia and low platelet counts and slows blood cell destruction. However, if
continued for long periods, prednisone may reduce the growth velocity of children and predispose
patients to infection.
Good nutrition is important to ensure normal growth and development of children with
osteopetrosis. Physical and occupational therapy are also extremely useful in helping children to
reach their full developmental potential. Even children with severe osteopetrosis frequently (about
80% of the time) have a normal intellectual level. The heavy skeleton results in gross motor
delays. Blindness can delay speech. The average severely affected child walks at about 2 years
and begins to speak at age 20 to 24 months.

Osteopetrosis is also known as marble bone disease and Albers-Schonberg disease.

Definition of DiGeorge syndrome

DiGeorge syndrome: A genetic disorder characterized by hypocalcemia, immunodeficiency, and
congenital heart disease:

Hypocalcemia (low calcium levels in the blood) due to hypoplasia (underdevelopment) of

the parathyroid glands that are needed to control calcium;

Immunodeficiency due to hypoplasia (underdevelopment) of the thymus (an organ behind

the breastbone needed for the maturation of lymphocytes into T cells); and

Congenital heart disease with defects of the outflow tracts (the pulmonary artery and
aorta) from the heart. Next to Down syndrome, DiGeorge syndrome is the most common
genetic cause of congenital heart disease.

DiGeorge syndrome is caused by a microdeletion in chromosome band 22q11.2. The key gene
that is lost is Tbx-1, a master control gene that regulates other genes required for the connection
of the heart with the blood circulation. Tbx-1 also controls genes involved in the development of
the parathyroid and thymus glands and the shape of the face.
Babies with DiGeorge syndrome are highly susceptible to infections and, in the past, usually died
by age 2. Transplantation of thymus tissue can restore normal immune function to infants with
DiGeorge syndrome.
However, bone marrow cells babies with DiGeorge syndrome can spontaneously transform into
rogue T cells that attack and reject the thymus transplant. An immunosuppressant drug called
Thymoglobulin (antithymocyte globulin), which selectively targets T cells, given prior to the
transplant has been found to quash the rogue T cells and permit a successful thymus transplant.
The syndrome is named for the American pediatric endocrinologist Angelo DiGeorge who worked
at St. Christopher's Hospital in Philadelphia. Also known as hypoplasia of the thymus and
parathyroids and as third and fourth pharyngeal pouch syndrome.
Common Misspellings: digeorge syndrone
Liver transplant: Surgery to remove a diseased liver and replace it with a healthy liver (or part of
one) from a donor. The most common reasons for liver transplantation in children is biliary atresia
(a disease in which the ducts that carry bile out of the liver are missing or damaged) while in
adults the most common reason for a liver transplant is cirrhosis (a disease in which healthy liver
cells are killed and replaced with scar tissue).
There is no effective treatment for end-stage liver disease other than a transplant. The life of
someone with kidney failure can be extended by dialysis and someone with a failing heart can
sometimes be sustained by an implantable pump, but there is no machines that can take over the
liver's functions. Until such machines can be devised, until an animal liver can replace a human
one or until new livers can be grown from stem cells, there is total dependence on liver
transplants.
Liver transplant may be from cadavers or living donors and involve the whole liver, a reduced liver
or a liver segment. The donor livers in transplants were initially from cadavers. Donor livers from
live donors are now in increasing use. Most transplants involve the whole organ. A reduced liver

transplant may be done if the donor liver is too large for the recipient. In segmental transplants, a
segment (often a lobe) of the liver is transferred from a living donor to a recipient. The first such
recipients were children. Now some are adults. The liver segments in the donor and the recipient
grow back to full size within about a month.
The donor must be an adult capable of giving informed consent. (The informed consent is not a
simple bioethical matter because liver-lobe transplantation is not risk-free for the donor.)
To determine who is in the most critical need of a liver transplant, the United Network for Organ
Sharing (UNOS) uses a system in the US that includes the Model for End-Stage Liver Disease
(MELD) scoring system for adults and the Pediatric End-Stage Liver Disease (PELD) scoring
system for children under 18 years of age. These scoring methods were set up so that donor
livers could be distributed to those who need them most urgently, not just who had been on the
waiting list the longest.
About 80 to 90% of recipients survive liver transplantation. Survival rates have improved over the
past several years because of drugs like cyclosporine and tacrolimus that suppress the immune
system and keep it from attacking and damaging the new liver.

Definition of Pagon syndrome

Pagon syndrome: Congenital anemia with spinocerebellar ataxia (wobbliness). The anemia is
characterized by sideroblasts (iron-rich ancestors of red blood cells). The spinocerebellar ataxia
becomes evident by 1 year of age.
The syndrome is inherited in an X-linked recessive manner and is due to mutation in the ABC
gene in Xq13.1-q13.3. The ABC gene is an ATP-binding cassette (ABC) transporter, encodes a
protein that localizes to the mitochondrial inner membrane and is involved in iron homeostasis.
Thus, Pagon syndrome is a mitochondrial disease caused by a mutation in the nuclear genome.
The syndrome is named for the American pediatric geneticist Roberta Anderson Pagon. The
condition is also known as ASAT "anemia, sideroblastic, and spinocerebellar ataxia" or ASAT.
Common Misspellings: pagon syndrone

Definition of T-cell lymphoma

T-cell lymphoma: A disease in which cells in the lymphoid system called T cells (or T
lymphocytes) become malignant. T-cell lymphomas account for a minority (about 15%) of nonHodgkin lymphomas in the US and are more common in Asia.
The T-cell lymphomas are highly diverse and include lymphoblastic lymphoma (mainly in children
and adolescents, where they account for about half of pediatric lymphomas); peripheral T-cell
lymphoma (a heterogeneous group of generally aggressive diseases); mycosis fungoides (called
Sezary syndrome if the malignant T cells circulate in blood); and anaplastic large cell lymphoma
(ALCL), both primary cutaneous and systemic ALCL.
T-cell lymphoma may involve the bone marrow but it usually comprises less than 25% of the
marrow. If 25% or more of the marrow is populated by the malignant T cells, it is considered T-cell
leukemia.
Common Misspellings: t-cell limpoma, t-cell lypoma, t-cell lymphnoma, t-cell lympoma, t-cell
lynphoma

Definition of Pneumonic plague

Pneumonic plague: Infection of the lungs by Yersina pestis, the bacterial agent that causes the
plague, a disease of animals (rodents and their fleas) and humans.
The first signs of the pneumonic plague are fever, headache, weakness, and cough productive of
bloody or watery sputum. The pneumonia progresses over 2 to 4 days and may cause septic
shock and, without early treatment, death.
Person-to-person transmission of pneumonic plague occurs through respiratory droplets, which
can only infect those who have face-to-face contact with the person who is ill.
Early treatment of pneumonic plague is essential. Several antibiotics are effective, including
streptomycin, tetracycline, and chloramphenicol.
There is no vaccine against plague but prophylactic antibiotic treatment for 7 days will protect
persons who have had face-to-face contact with infected patients.
The CDC (Centers for Disease Control and Prevention) has classified Yersina pestis as a highpriority (Category A) bioterrorism agent.