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A 37 Age - year Age - old Age Caucasian Personal_background man Sex was referred Clinical_event to our department Nonbiological_location from Nonbiological_location an Nonbiological_location external Nonbiological_location hospital Nonbiological_location because of severe Severity abdominal Biological_structure pain Sign_symptom of unclear Qualitative_concept aetiology Qualitative_concept .
The patient suffered from Friedreich's Disease_disorder ataxia.1 2 His most recent transthoracic Biological_structure echocardiography Diagnostic_procedure , performed on the day Date of Date admission Date , showed a dilated Detailed_description cardiomyopathy Disease_disorder , impaired Lab_value left Diagnostic_procedure ventricular Diagnostic_procedure function Diagnostic_procedure with an ejection Diagnostic_procedure fraction Diagnostic_procedure of 30% Lab_value and a pulmonary Diagnostic_procedure artery Diagnostic_procedure pressure Diagnostic_procedure of 55 Lab_value mm Lab_value Hg Lab_value ; all findings were unchanged from previous examinations.
At that time, he lived Activity alone Detailed_description in History a History residential History home History and was mobile Activity using History a History wheelchair Detailed_description .
On arrival Clinical_event at our emergency Biological_structure department Biological_structure , the patient was somnolent Sign_symptom and disoriented Sign_symptom .
His axillary Biological_structure body Diagnostic_procedure temperature Diagnostic_procedure was 35.7 Lab_value °C Lab_value and his arterial Biological_structure blood Diagnostic_procedure pressure Diagnostic_procedure 125/89 Lab_value mm Lab_value Hg Lab_value , with a pulse Diagnostic_procedure rate Diagnostic_procedure of 84 Lab_value rhythmic Lab_value beats/min Lab_value .
He complained of an increasing Detailed_description , diffuse Detailed_description abdominal Biological_structure pain Sign_symptom during Detailed_description the Detailed_description whole Detailed_description day Detailed_description , combined with absence Sign_symptom of Sign_symptom appetite Sign_symptom and vomiting Sign_symptom on a single Frequency occasion Frequency .
His daily Dosage medication Medication was perindopril Medication 2.5 Dosage mg Dosage , torasemide Medication 7.5 Dosage mg Dosage and esomeprazole Medication 40 Dosage mg Dosage .
On physical Diagnostic_procedure examination Diagnostic_procedure , we found a tender Sign_symptom abdomen Biological_structure with painful Sign_symptom epigastric Biological_structure palpation Diagnostic_procedure .
Normal Lab_value bowel Diagnostic_procedure sounds Diagnostic_procedure were auscultated Diagnostic_procedure in the upper Biological_structure right Biological_structure and Biological_structure lower Biological_structure left Biological_structure quadrants Biological_structure .
The renal Biological_structure bed Biological_structure was free of pain Sign_symptom on palpation Diagnostic_procedure .
On cardiac Biological_structure auscultation Diagnostic_procedure , a 2/6 Lab_value systolic Detailed_description murmur Sign_symptom was audible.
Lung Biological_structure auscultation Diagnostic_procedure showed normal Lab_value respiration Diagnostic_procedure .
Laboratory Diagnostic_procedure findings Diagnostic_procedure were slightly Lab_value elevated Lab_value C Diagnostic_procedure reactive Diagnostic_procedure protein Diagnostic_procedure ( CRP Diagnostic_procedure ) of 16 Lab_value mg/l Lab_value (normal: <5 mg/l), elevated Lab_value troponin Diagnostic_procedure - T Diagnostic_procedure - hs Diagnostic_procedure of 0.070 Lab_value µg/l Lab_value (normal: <0.014 µg/l) and highly Lab_value elevated Lab_value pro Diagnostic_procedure - B Diagnostic_procedure - type Diagnostic_procedure natriuretic Diagnostic_procedure peptide Diagnostic_procedure of 7382 Lab_value pg/ml Lab_value (normal: <63 pg/ml).
Kidney Diagnostic_procedure function Diagnostic_procedure parameters Diagnostic_procedure were in the upper Lab_value normal Lab_value range Lab_value , with creatinine Diagnostic_procedure of 100 Lab_value µmol/l Lab_value and a calculated Diagnostic_procedure glomerular Diagnostic_procedure filtration Diagnostic_procedure rate Diagnostic_procedure of 73 Lab_value ml/min Lab_value .
Blood Diagnostic_procedure count Diagnostic_procedure revealed leucocytosis Sign_symptom of 15.6×109/litre Lab_value .
Regarding thyroid Diagnostic_procedure function Diagnostic_procedure , thyroid Diagnostic_procedure - stimulating Diagnostic_procedure hormone Diagnostic_procedure , f Diagnostic_procedure - T3 Diagnostic_procedure and f Diagnostic_procedure - T4 Diagnostic_procedure were in Lab_value the Lab_value reference Lab_value range Lab_value .
Urine Diagnostic_procedure analysis Diagnostic_procedure showed no pathology Disease_disorder .
In abdominal Biological_structure sonography Diagnostic_procedure , all organs were normal Lab_value , especially the kidneys Biological_structure .
No free Sign_symptom fluid Sign_symptom was detected (figure 1).
As the severe Severity pain Sign_symptom persisted all Duration night Duration , despite analgesia Therapeutic_procedure with paracetamol Medication 1 Dosage g Dosage , metamizole Medication 1 Dosage g Dosage and pethidine Medication 75 Dosage µg Dosage , a contrast Detailed_description - enhanced Detailed_description abdominal Biological_structure CT Diagnostic_procedure was performed revealing infarction Disease_disorder of the right Biological_structure kidney Biological_structure , which appeared as a hypodense Sign_symptom area Sign_symptom although kidney Biological_structure arteries Biological_structure and Biological_structure veins Biological_structure were assessed as open Sign_symptom (figures 2 and ​3).
Cardiac Disease_disorder dysfunction Disease_disorder is the most frequent cause of death Outcome in patients affected by Friedreich's Disease_disorder ataxia Disease_disorder , most commonly from congestive Detailed_description heart Disease_disorder failure Disease_disorder or arrhythmia Disease_disorder .
Renal Biological_structure artery Biological_structure embolism Disease_disorder is not a rare event in these patients.
However, other non-abdominal viscous causes of severe Severity diffuse Detailed_description abdominal Biological_structure pain Sign_symptom such as porphyria Disease_disorder , familial Mediterranean Disease_disorder fever Disease_disorder , diabetic Disease_disorder ketoacidosis Disease_disorder , tocopherol Disease_disorder deficiency Disease_disorder also had to be excluded.
The negative Lab_value cardiolipin Diagnostic_procedure test Diagnostic_procedure excluded tabetic Disease_disorder crises Disease_disorder .
No evidence for pre Detailed_description - existing Detailed_description porphyria Disease_disorder was encountered for example, quantitative determination of δ Diagnostic_procedure - aminolevulinic Diagnostic_procedure acid Diagnostic_procedure , porphobilinogen Diagnostic_procedure and porphyrin Diagnostic_procedure in 24 Detailed_description - h Detailed_description urine Detailed_description was negative Lab_value .
Further genetic Diagnostic_procedure diagnosis Diagnostic_procedure regarding, for example, clotting Disease_disorder disorder Disease_disorder , was also not Lab_value conclusive Lab_value .
Hypovitaminosis Disease_disorder was not present.
The patient had no endocrinopathies Disease_disorder , for example, no diabetes Disease_disorder and no evidence for hypothyreosis Disease_disorder or hyperthyreosis Disease_disorder .
The patient was hospitalised Clinical_event without delay at the department Nonbiological_location of Nonbiological_location nephrology Nonbiological_location .
Immediate anticoagulation Medication with heparin Medication was initiated and later replaced by lifelong Duration oral Administration anticoagulation Medication with phenprocoumon Medication .
During 11 Duration days Duration of hospitalisation Clinical_event , no complications Disease_disorder occurred.
Kidney Diagnostic_procedure function Diagnostic_procedure parameters Diagnostic_procedure remained normal Lab_value .
Transoesophageal Biological_structure echocardiography Diagnostic_procedure on the fifth Date day Date showed no cardiac Biological_structure thrombus Disease_disorder and no patent Disease_disorder foramen Disease_disorder ovale Disease_disorder .
Deep Disease_disorder vein Disease_disorder thrombosis Disease_disorder was excluded with duplex Detailed_description sonography Diagnostic_procedure .
Anticardiolipin Diagnostic_procedure antibody Diagnostic_procedure testing Diagnostic_procedure and genetic Diagnostic_procedure testing Diagnostic_procedure regarding clotting Detailed_description disorders Detailed_description were both negative Lab_value .
Urine Diagnostic_procedure tests Diagnostic_procedure revealed no evidence of porphyria Disease_disorder .
During hospitalisation Clinical_event the patient remained stable Lab_value regarding cardiological Diagnostic_procedure function Diagnostic_procedure , while diuretics Medication were adjusted Detailed_description according Detailed_description to Detailed_description the Detailed_description fluid Detailed_description balance Detailed_description .
The patient had already been treated with levofloxacin Medication for pneumonic Biological_structure infection Disease_disorder prior to hospitalisation Clinical_event .
The antibiotic Coreference treatment Coreference was continued because of increasing Lab_value inflammatory Diagnostic_procedure parameters Diagnostic_procedure in the further course of disease.
A CRP Diagnostic_procedure increase Lab_value of up to 200 Lab_value mg/l Lab_value was interpreted as an inflammatory response to renal infarction.
By discharge Clinical_event , laboratory Diagnostic_procedure parameters Diagnostic_procedure were significantly Lab_value decreased Lab_value .