• Pyruvate kinase
    deficiency

Pyruvate kinase deficiency

Glossary Pyruvate kinase deficiency

(work in progress)

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

A

aftercare
the supporting of a patient in his/her home situation
Aftercare is not limited to the recovery of a patient after a treatment, but also to the relief of financial, psychological and social problems of a patient and his/her partner and family resulting from his/her (chronic) condition. See also the European recommendation and multidisciplinary team.

amino acid
a category of (bio)chemical substances that may form long chains
Specific amino acids are the building blocks of proteins. Almost all enzymes, like pyruvate kinase, are proteins. The lengths of proteins vary from a few dozens to many hundreds of amino acids. No more than twenty different amino acids occur in human proteins.

amniocentesis
form of prenatal diagnosis to determine chromosomal or genetic disorders in the foetus
In an AFT a small amount of the fluid surrounding the unborn baby (amniotic fluid) is sampled from the amniotic sac surrounding a developing foetus. Then the foetal tissue is examined for genetic abnormalities. In hereditary diseases such as PKD, this examination consists of testing the cell DNA.

anaemia
a lowered ability of the blood to transport oxygen due to a lack of haemoglobin
This is due to a decreased number of red blood cells or a low haemoglobin amount in the cells. The degree of anaemia is indicated by the concentration of haemoglobin in the blood [Hb] in g/dl (gram per deciliter). In some countries like the Netherlands, [Hb] is expressed in mmol / l (millimoles per liter). The following conversion rules apply:
1 g/dl = 0.62 mmol/l
1 mmol/l = 1,61 g/dl).
Note: Sometimes the haemoglobin molecule itself has a defect that reduces its oxygen carrying ability (see haemoglobinopathies)..

antigens
foreign substances that can generate an immune response
(abbreviation of ANTIbody GENerator)
These are usually (parts of) protein and sugar molecules on the outside of viruses and bacteria, but also a (small piece of a) 'foreign' protein on the outside of a donor blood cell can be an antigen. This immune response consists of the production of antibodies, proteins that bind to the antigens enabling certain immune cells to destroy the bacterium or virus or to break down the donor blood cell. The scheme of antigens, antibodies and clearing cells is an important part of our immune system. (see also HLA).

B

bile (gall)
substance produced in the liver to facilitate the digestion of fats
Bile is a yellow-green to black emulgator. That is a substance that disperses fat from food into small droplets so that the intestines can digest it better.

bile ducts
system of smaller and larger channels through which the bile produced in the liver is drained to the gallbladder and the small intestine.

bilirubin
No description yet.

blood breakdown
the breakdon of red blood cells

blood transfusion
the administration of (donor) blood via an infusion into a vein
Nowadays patients do no longer receive all of the donor blood but only the red blood cells ("packed cells"). PKD patients who require regular transfusions receive packed cells from which the white blood cells (leukocytes) and the plasma have been removed as much as possible to prevent immune reactions as much as possible.

BMT
bone marrow transplantation.

bone marrow
a semi-liquid red substance in the spongy interior of the (larger) bones
Stem cells in the bone marrow are constantly producing enormous numbers of blood cells. The vast majority of these are red blood cells. A healthy adult man is producing more than two million blood cells per second during his whole life!

bone marrow transplantation
the receiving of bone marrow from a healthy donor.
This operation has major risks, but it can really cure a patient of hereditary blood diseases such as PKD (cf. stem cell transplantation).

C

cardiologist
Doctor specialised in conditions and diseases related to the heart

carrier
person that carries only one gene for a particular recessive condition
A carrier does not have the condition himself, but can get children with the condition if his/her partner is also a carrier of the condition or has that condition. If a carrier gets a child with another carrier, the chance that the child:

  • has the condition, is 25%,
  • is also carrier, is 50% and
  • is not having the condition nor a carrier, is 25%.

See web pages heredity and carriers.

cell respiration
the breakdown of glucose to release energy with the formation of water and carbon dioxide
Glucose is broken down via a long series of little steps, each time releasing a little bit of the energy necessary for the cell’s life. For each little step to occur, a different enzyme is needed, one of these being pyruvate kinase. This process requires oxygen and results in waste products such as CO2 and water, hence the term respiration.

centre of expertise
medical center with a team of care providers specialised in a particular rare disease
The Van Crefeld kliniek of the UMC Utrecht is an expertise center for PKD. Each member state of the EU may designate one or more centres of expertise for a particular rare disease.

chelation therapy
treatment with one or more chelators to remove metals from the body via urine and/or feces

chelator
a chemical compound that bonds with metal ions (dissolved metals)
The word chelator is related to the English claw.

children hematologist
pediatrician specialised in blood diseases

chorionic villus sampling
form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetusi
In a CVS a small sample of cells from the placenta is taken and then examined for chromosomic or genetic abnormalities. In hereditary diseases such as PKD, this examination consists of testing of the cell DNA.

coordination
The exchange of all data relevant for the patient’s care between the doctors in the centres of expertise and the regional hospital where the patient is usually treated

D

deferasirox
an iron chelator in the form of a pill
Exjade, the newest and most expensive of all iron chelators is a well-known trade name.

deferipron
an iron chelator in the form of a pill
Ferriprox is a well-known trade name.

deferoxamine
an iron chelator that is infused into a vein
The oldest commercially available iron chelator. Desferal is a well-known trade name.

Desferal
A trade name for deferoxamine

diagnosis
determining the disorder/disease that a patient suffers
A proper diagnosis is based upon the complaints and symptoms that occur.

DNA
a very long biochemical molecule that contains the hereditary information
DNA is located in the genes in the nuclei of cells. DNA contains the codes ('recipes') for proteins, including pyruvate kinase. In PKD patients there is at least one error in the code for PK of the red blood cell. Other cells produce PK based on another code in the DNA.

E

endocrinologist
doctor specialised in disorders and diseases of hormone producing glands
Glands such as the pituitary gland, thyroid gland, pancreas, adrenal glands, ovaries and testicles produce many types of hormones, substances that (help) regulate processes in the body. An endocrinologist treats patients with diseases and disorders caused by malfunctioning glands causing a hormone deficiency or excess hormone.

enzyme
natural substance enabling biochemical reactions in cells
Like a catalyst, an enzyme remains unchanged after the chemical reaction. That is why an enzyme is also called a natural catalyst. Almost all enzymes, such as pyruvate kinase, are proteins.

erythrocyte
Red blood cell
erytro is red en cyt is cell in ancient Greek.

European Reference Networks (ERNs)
Networks of centres of expertises in Europe
ERNs are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex or rare diseases and conditions that require highly specialised treatment, and concentrated knowledge and resources. Each member state of the EU may designate one or more centres of expertise for a certain rare disease.

European recommendation
Council Recommendation on an action in the field of rare diseases 2009/C 151/02
European legislation (see Eurlex 32009H0703(02)) on which base Member States have drawn up plans to improve not only the diagnosis, prevention and treatment of rare diseases but also the 'quality of life and socio-economic potential' of affected persons through close cooperation between Member States and on global level. The recommendation encourages the establishment of national/regional Centers of expertise that “could follow a multidisciplinary approach to care, in order to address the complex and diverse conditions implied by rare diseases”. These centres should cooperate in European Reference Networks.

exchange transfusion
treatment where the blood of a patient is (partially) replaced by donor blood
Newborns with a blood disorder such as a haemolytic anaemia or sickle cell disease may undergo this treatment. It consists of a series of blood transfusions, each of which is followed by an equally large blood draw. As a result, the concentration of the not functioning blood cells, or the concentration of an undesirable substance (like bilirubin), in the blood of a patient decreases under an intended level.

Exjade
trade name for the iron chelator deferasirox

expert doctor
doctor in a centre of expertise coordinating care for patients with the rare disease concerned
The expert doctor maintains contact with the doctor in the (regional) hospital where a patient is being treated.

F

Ferriprox
trade name for the iron chelator deferiprone

ferritin
a protein in which the body packs iron
Ferritin is mainly stored in the liver, the pancreas and the bone marrow. Most of this iron comes from the blood breakdown. It is reused for the production of new red blood cells.

ferritin level in blood (serum ferritin)
number indicating the ferritin concentration in blood
A small part of all ferritin is in the blood. In case of iron overload there is more ferritin stored than the body needs. Therefore, the ferritin level in the blood is used as an indication of the degree of iron overload.
Unfortunately, this is not a very reliable method since the body is releasing ferritin also when an inflammation occurs.

G

gall (bile)
substance produced in the liver to facilitate the digestion of fats
See bile.

gallbladder
Description in English not available yet.

gallstone
Description in English not available yet.

glucose
Description in English not available yet.

H

Hb
Description in English not available yet.

haematologist
Description in English not available yet.

haemochromatosis
Description in English not available yet.

haemoglobin
Description in English not available yet.

haemoglobinopathies
Description in English not available yet.

haemolysis
Description in English not available yet.

hepcidine
Description in English not available yet.

HLA
Description in English not available yet.

hormone
Description in English not available yet.

I

in vitro fertilization
Description in English not available yet.

iron chelator
Description in English not available yet.

iron deficiency
Description in English not available yet.

iron overload
Description in English not available yet.

iron therapy
Description in English not available yet.

ivf
Description in English not available yet.

L

leukocytes
Description in English not available yet.

light therapy
Description in English not available yet.

M

multidisciplinary consultation
Description in English not available yet.

multidisciplinary team
Description in English not available yet.

O

orthodontist
Description in English not available yet.

orthopedist
Description in English not available yet.

osteoporosis
Description in English not available yet.

osteoporosis
Description in English not available yet.

P

peripheral hospital
Description in English not available yet.

PGD
Description in English not available yet.

PGD-HLA
Description in English not available yet.

PK
Description in English not available yet.

PKD
Description in English not available yet.

plasma
Description in English not available yet.

pneumovax
Description in English not available yet.

prenatal
Description in English not available yet.

prenatal diagnosis
Description in English not available yet.

prevalence
Description in English not available yet.

prevention
Description in English not available yet.

primary iron overload
Description in English not available yet.

PROMs
Description in English not available yet.

protein
Description in English not available yet.

protocol
Description in English not available yet.

psychologist
Description in English not available yet.

pulmonary hypertension
Description in English not available yet.

pyruvate
Description in English not available yet.

pyruvate kinase
Description in English not available yet.

R

rare disease
Description in English not available yet.

RBC
red blood cell

recessive
Description in English not available yet.

red blood cell
Description in English not available yet.

reticulocyt
Description in English not available yet.

S

SCT
Description in English not available yet.

secondary iron overload
Description in English not available yet.

sickle cell disease
Description in English not available yet.
See Organisation for Sickle Cell Anemia Relief (Dutch).

spleen
Description in English not available yet.

stem cell transplantation
Description in English not available yet.

stem cells
Description in English not available yet.

V

vaccination
Description in English not available yet.

W

white blood cell
Description in English not available yet.

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