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Inclusion Criteria
• Renal biopsy showing a thrombotic microangiopathy, OR • the classic triad of microangiopathic haemolytic anaemia, thrombocytopenia, renal failure.
Exclusion Criteria
• Shiga toxin associated HUS • Secondary causes – drugs, infection (HIV, Streptococcus pneumonia), transplantation (bone marrow, liver, lung, cardiac but not de-novo renal), cobalamin deficiency, SLE, APL Ab syndrome, scleroderma • ADAMTS13 activity <10% or anti-ADAMTS13 autoantibodies
Prior Genetic Testing
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: CFH, CFI, CD46
Closing Statement
These requirements will be kept under continual review during the main programme and may be subject to change.
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Microangiopathic hemolytic anemia
Thrombocytopenia
A reduction in the number of circulating thrombocytes. Comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).
Acute kidney injury
Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies.
Chronic kidney disease
Functional anomaly of the kidney persisting for at least three months.
Seizures
Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. Comment: The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.
Stroke
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Transient ischemic attack
Confusion
Lack of clarity and coherence of thought, perception, understanding, or action.
Angina pectoris
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Gastrointestinal hemorrhage
Hemorrhage affecting the gastrointestinal tract.
Hypertension
The presence of chronic increased pressure in the systemic arterial system. Comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both.
Hemolytic-uremic syndrome
Mesangial hypercellularity
Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment.
Thickening of the glomerular basement membrane
Increase in thickness of the basal lamina of the glomerulus of the kidney. Comment: This finding is demonstrated on renal biopsy.
Thin glomerular basement membrane
Reduction in thickness of the basal lamina of the glomerulus of the kidney. Comment: This finding is demonstrated on renal biopsy.
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- Age at ESRD
- Full Blood Count
Please provide the following test results if they are available, in addition to the elements included in the generic laboratory test data model:
- Extended haematology investigations
- Renal biochemistry
Please provide the following test results if they are available, in addition to the elements included in the generic laboratory test data model:
- Liver biochemistry
Please provide the following test results if they are available, in addition to the elements included in the generic laboratory test data model:
- Inflammatory markers
- Complement
- Urine dip - standard
- Urine electrolytes
- General Biopsy
General investigation report to capture biopsies. Inherits all the elements in the abstract Biopsy class and the abstract Investigation Class.
- Renal Biopsy
Inherits all the elements in the abstract Biopsy class and the abstract Investigation Class.
- Blood pressure
- Urine Protein
Urine Protein result