Welcome at the website of the center for tubular disorders
Who are we
The Radboudumc and Erasmus MC have special interest in renal tubular disorders, concerning both patient care and research. We therefore combined our efforts and set up a national center for tubular disorders, which is employed from two locations.
Purpose of the center for tubular disorders
With this center for tubular disorders we want to cluster the knowledge on these rare diseases and hereby improve the treatment and counseling of patients and improve research and diagnostic tools. We focus on both patients with (suspected) congenital and acquired renal tubular disorders. Important parts of our center are a specialized outpatient department, diagnostic protocols, indivdiualized treatment, research and this website.
On this website we give information for both patients and professionals.
For patients we explain about many tubular disorders and a patient community is formed where patients can meet each other to exchange experiences.
For professionals we provide background information on diseases, information about current research in our center and there is the possibility of referring patients. We focus here in particular on a detailled phenotyping (including functional tubular tests) and diagnotics, targeted genotyping and giving initial therapeutic advices. Thereafter, obviously depending on the preference of referrer and patient, patients will be referred back with advice for follow-up and detailed information for the patient. When in doubt, the professional can also consult prior referral by phone or email, to assess together whether referring is useful.
What are renal tubular disorders
Healthy and well-functioning kidneys are of vital importance. Kidneys namely ensure the disposal of waste, a good balance of water, salts and minerals and they make several hormones which are for example important for the production of red blood cells and bone structure.
The kidney is made up of so-called “nephrons”. Each nephron consists of a tangle of blood vessels (the glomerulus), Bowman’s capsule (the capsule that surrounds the glomerulus) and renal tubules (tubules). The glomeruli act as filters. Blood is forced through the filter wherein the pro-urine is created consisting of water containing dissolved waste products and salts (sodium, chloride, calcium, phosphate, magnesium, etcetera). The pro-urine is then directed to the bladder through the tubules.
In the tubules, a portion of the water and dissolved substances are reabsorbed into the blood. In addition, tubules can excrete extra substances from the blood into the urine. To do this, the tubules have a complex system of transport proteins.
If these tubules or specific transport proteins do not function well, these are called tubular disorders. Often, this results in disturbed concentrations of salts and minerals in blood and urine (“electrolyte disorders”). Common symptoms include fatigue, muscle weakness, tingling, muscle spasms, heart rhythm disorders, kidney stones, excessive urination, dehydration and osteoporosis.