Management
Apart from controlling other risk factors, the goal of therapy is to slow down or halt the progression of CKD. Control of blood pressure and treatment of the original disease are the broad principles of management. Blood pressure
Angiotensin converting enzyme inhibitors (ACEIs) or angiotensin II receptor antagonists (ARBs) are recommended as first-line agents since they have been found to slow the decline of kidney function, relative to a more rapid decline in those not on one of these agents. They have also been found to reduce the risk of major cardiovascular events such as myocardial infarction, stroke, heart failure, and death from cardiovascular disease when compared to placebo in individuals with CKD. ACEIs may be superior to ARBs for protection against progression to kidney failure and death from any cause in those with CKD. Aggressive blood pressure lowering decreases peoples risk of death. Other measures
Aggressive treatment of high blood lipids is recommended. A low-protein, low-salt diet may result in slower progression of CKD and reduction in proteinuria as well as controlling symptoms of advanced CKD to delay dialysis start. A tailored low-protein diet, designed for low acidity, may help prevent damage to kidneys for people with CKD. Additionally, controlling salt ingestion helps to decrease the incidence of coronary heart disease, lowering blood pressure and reducing albuminuria. Anemia - A target hemoglobin level of 9–12 g/dL is recommended; raising hemoglobin levels to the normal range has not been found to be of benefit.Guidelines recommend treatment with parenteral iron prior to treatment with erythropoietin.
This research has been performed on mice with the gene for producing cystatin B removed, to provide a similar set of symptoms to individuals with ULD. The mechanism currently supported by research is very similar to another theory of epilepsy progression known as kindling. Onset
Current research links cystatin B to production of inhibitory neurons known as GABAergic neurons. It has shown that a lack of cystatin B due to a mutation of the CSTB gene leads to a decrease in the number of inhibitory neurons, and this lack of inhibition makes the cells in the brain, particularly the hippocampus, more excitable. It is hypothesized that this increase in excitability is what causes the myoclonic jerks and tonic-clonic seizures in patients with ULD. Progression
Research also gives evidence to support the idea that cystatin B may be a type of "protecting" molecule in the brain. Normally, after a seizure, the presence of cystatin B prevents the neurons from dying due to toxic levels of neurotransmitters. Studies suggest that the absence of cystatin B leads to the death of affected neurons, leading to a damaged portion of the brain. This damage coupled with the increased excitability of the cells then leads to more damage, which is what makes Unverricht–Lundborg disease progressive. Diagnosis
The only currently available method to diagnose Unverricht–Lundborg disease is a genetic test to check for the presence of the mutated cystatin B gene. If this gene is present in an individual suspected of having the disease, it can be confirmed.