Nephrocalcinosis as adult presentation of Bartter syndrome type II.

Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCNJ1 mutation resulting in a remarkably mild phenotype of neonatal type Bartter syndrome.

Late onset takayasu arteritis and rheumatoid arthritis.

We encountered the rare case of a 48-year-old Caucasian woman who developed Takayasu arteritis (TA) while suffering from seropositive rheumatoid arthritis (RA). Several studies have reported an association between TA and various autoimmune disorders, however, the concurrent presence of Takayasu arteritis and rheumatoid arthritis is described in only few cases in the literature to date. The exact nature of the relationship between TA and RA remains unknown. Perhaps the development of these two diseases represents non-specific systemic inflammatory changes in the presence of a hereditary background predisposing to both RA and TA.

Hypocalcaemic laryngospasm in the emergency department.

A 51-year-old African male presented to the emergency department with a sore throat, a productive cough and a striking pinched voice. Investigation revealed severe hypocalcaemia (0.97 mmol/l) with a prolonged QT interval on ECG. The authors administered intravenous calcium in the emergency department, which instantly improved the quality of the patient's voice. He was eventually diagnosed with primary hypoparathyroidism and an upper airway infection. Severe hypocalcaemia is a life-threatening condition. Identifying laryngospasm as an atypical presentation in the presence of a concomitant airway infection and prompt treatment in the emergency department are critical.

Severe non-type-1 Legionella pneumophila infection without pneumonia.

We present a patient with myalgia and ongoing fever without respiratory symptoms caused by a Legionella pneumophilia infection. We conclude that in patients with fever of unknown origin legionellosis should be considered, even in the absence of pulmonary symptoms. When considering legionellosis, diagnostic tests should include the urinary antigen test.

ANCA-Positive Patients: The Influence of PR3 and MPO Antibodies on Survival Rate and The Association with Clinical and Laboratory Characteristics.

OBJECTIVES: To compare the survival rate, and the clinical and laboratory characteristics in patients, characterized by the presence of certain anti-neutrophil cytoplasmic auto-antibodies (ANCAs). METHODS: In a retrospective observational study, we analyzed the data of all patients with a positive ANCA test between 1995 and 2005 at our hospital. Based on serology patients were divided in three subgroups (ANCA-Proteinase 3 (PR3), ANCA-Myeloperoxidase (MPO) and atypical ANCA), irrespective of the diagnosis. Patient survival was compared by Kaplan Meier survival analysis. Differences in clinical and laboratory characteristics between the groups of specific ANCAs were determined. RESULTS: Fifty-four ANCA-positive patients were analyzed. Eighteen of these patients were ANCA-PR3-positive, 17 were ANCA-MPO-positive and 19 had a atypical ANCA. A random control group was created of matched ANCA negative patients. Average follow-up time was 52 months. The calculated five year survival rate in respectively the ANCA-PR3- positive group, the ANCA-MPO-positive group, the atypical ANCA group and the ANCA-negative group was 45%, 81%, 90% and 100%. (P = 0.012, Wilcoxon test). A higher mean leukocyte count, a higher mean erythrocyte sedimentation rate and more fever was observed in the ANCA-PR3-positive group compared to the ANCA-MPO-positive group. CONCLUSIONS: A remarkable lower survival rate was observed in ANCA-PR3-positive patients compared to ANCA-MPO-positive patients. We also demonstrated that patients characterized by the presence of a defined ANCA differ in clinical and laboratory characteristics.

[ANCA(antineutrophil cytoplasmic antibodies)-associated vasculitis in a man with extreme fatigue, fever and progressive renal dysfunction]. / Vasculitis geassocieerd met antineutrofielencytoplasmatische antistoffen (ANCA) bij een man met ernstige vermoeidheid, koorts en een progressieve nierfunctiestoornis.

A 55-year-old man, with no previous history, presented with extreme fatigue and fever and was admitted to hospital. He had progressive renal dysfunction and his serum anti-neutrophil cytoplasmic antibodies (ANCA) were markedly elevated. Renal histology was consistent with ANCA-associated vasculitis. The patient was successfully treated with cyclophosphamide and prednisolone. The classification and management of the ANCA-associated vasculitides are described. The classification was guided by the clinical presentation, serology and results of tissue biopsies. The ANCA inflammation had affected the middle sized and small vessels of especially the upper and lower airways, and the kidneys. The antibodies were directed at proteinase-3 (PR3) or myeloperoxidase (MPO). PR3-ANCA is predominantly found in Wegener's granulomatosis, while MPO-ANCA is related to microscopic polyangiitis. Tissue studies showed granulomatous inflammation of the airways which is typical of Wegener's disease. This type of inflammation is absent in microscopic polyangiitis. The initial treatment schedule consists of prednisone 1 mg/kg daily and oral cyclophosphamide 2 mg/kg daily. In the remission phase, the cyclophosphamide is replaced by azathioprine. It is not yet known how long maintenance treatment should be continued and which parameters have prognostic value.

Sporadic porphyria cutanea tarda due to haemochromatosis.

Haemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues. Sometimes this disease presents as a cutanea porphyria. We describe a patient with joint complaints and blistering skin lesions on sun-exposed skin. After identifying the porphyria cutanea tarda by urine analysis we found that the serum activity of uroporphyrinogen decarboxylase (UROD) was normal, meaning a partial inactivation of UROD in liver tissue due to external factors. Further investigation showed the homozygous Cys282Tyr missense mutation and high levels of serum ferritin. It is important to recognise the symptoms of iron overloading at an early stage because hereditary haemochromatosis needs to be treated immediately. We therefore advocate routine sampling of ferritin levels in patients with unexplained joint complaints.

[Progressive multifocal leukoencephalopathy in a patient following long-term immunosuppressive therapy for systemic lupus erythematosus]. / Progressieve multifocale leuko-encefalopathie bij een patiënte na langdurige immunosuppressieve behandeling wegens lupus erythematodes disseminatus (SLE).

A 41-year-old woman who had suffered from systemic lupus erythematosus (SLE) for 22 years presented with signs of neurological deficits. CT-scanning of the brain revealed hypodense lesions that suggested cerebral infarction due to vasculitis in SLE. However, in spite of intensified immunosuppressive therapy, she showed rapid neurological deterioration. After extensive, additional examinations and tests, the diagnosis was finally changed to progressive multifocal leukoencephalopathy, caused by an opportunistic infection by the JC polyomavirus. Neurological and psychiatric symptoms frequently occur in patients with SLE. The differential diagnosis of these symptoms in SLE is extensive and includes, on the one hand, primary neurological and psychiatric diseases related to direct involvement of the nervous system by SLE, and on the other hand, secondary syndromes arising as a result of complications of the SLE or the immunosuppressive treatment. Opportunistic infections are often an important secondary cause of neurological and psychiatric syndromes in patients with SLE. The clinical symptoms and radiological cerebral signs are non-specific and usually do not suffice to differentiate between the various syndromes. Since each syndrome requires its own specific clinical approach and treatment, extensive diagnostics are mandatory before the diagnosis 'cerebral lupus' can be made and immunosuppressive therapy can be started or intensified.

[Abnormalities in tattooed skin: sometimes sarcoidosis]. / Afwijkingen in getatoeëerde huid: soms sarcoïdose.

A 43-year-old man presented with a nodular tattoo lesion on his right upperarm. Histologically it resembled the granulomatous reaction seen in systemic sarcoidosis. Further evaluation revealed asymmetrical hilar lymphadenopathy with no interstitial lung disease. Since the patient was a heavy smoker, bronchus carcinoma could not be excluded and cervical mediastinoscopy was performed in order to obtain a lymph-node biopsy. This confirmed the diagnosis of systemic sarcoidosis. The patient was treated by local application of corticosteroids, but with little result. Skin lesions in scars or tattoos may be the first symptom of systemic sarcoidosis. Skin biopsy for histological confirmation of the diagnosis is recommended, as is further investigation to evaluate other organ systems which may be affected.

Severe hypokalaemic paralysis and rhabdomyolysis due to ingestion of liquorice.

Chronic ingestion of liquorice induces a syndrome with findings similar to those in primary hyperaldosteronism. We describe a patient who, with a plasma K+ of 1.8 mmol/l, showed a paralysis and severe rhabdomyolysis after the habitual consumption of natural liquorice. Liquorice has become widely available as a flavouring agent in foods and drugs. It is important for physicians to keep liquorice consumption in mind as a cause for hypokalaemic paralysis and rhabdomyolysis.

[A man from Surinam with haemorrhagic diarrhoea after long-standing schistosomiasis]. / Een Surinaamse man met bloederige diarree na jarenlange onbekende schistosomiasis.

A 35-year-old man presented with a brief history of haemorrhagic diarrhoea. He had moved to The Netherlands 24 years before and had been in Surinam 12 years ago for the last time. Physical examination and routine laboratory tests revealed no abnormalities. Colonoscopy showed a striking congestion of the small blood vessels; histological examination of a sigmoid biopsy revealed Schistosoma eggs and microbiological investigation of the feces revealed ova of Schistosoma mansoni. The schistosomiasis was thus diagnosed more than 10 years after the last possible exposure to schistosomal cercariae. The patient was treated with a single dose of praziquantel.

Fluid homeostasis in chronic obstructive lung disease.

Chronic obstructive pulmonary disease (COPD) often leads to massive oedema and the development of what is usually called cor pulmonale. The mechanisms by which patients with COPD retain salt and water are not completely understood. Several abnormalities have been found including reduced renal blood flow with relatively preserved glomerular filtration rate and elevated levels of renin, aldosterone, arginine vasopressin and atrial natriuretic peptide. Generally, these abnormalities worsen with the severity of COPD and are most marked during the oedematous phases. Cardiac output is remarkably normal, suggesting that "cor pulmonale" is not primarily a cardiac disorder but rather a condition of volume overload due to activation of sodium-retaining mechanisms. The stimulus for this activation could be underfilling of the arterial system (reduced effective circulating volume) secondary to a fall in total peripheral vascular resistance. The latter is caused by hypercapnia-induced dilation of the precapillary sphincters. Apparently, the massive sodium retention by the kidney is not able to restore the circulating volume and a vicious cycle ensues ultimately leading to a clinical picture which resembles right-sided heart failure. Predictably, only blockade of the effects of carbon dioxide at the level of the precapillary sphincters would be able to halt this process.

[Diagnostic image (107). A man with weight loss and skin nodes]. / Diagnose in beeld (107). Een man met gewichtsverlies en huidknobbeltjes. Huidmetastasen van een longcarcinoom.

A 63-year-old man who presented with loss of weight and skin nodes on head and hands was diagnosed with pulmonary carcinoma.

Life-threatening hypokalaemia and quadriparesis in a patient with ureterosigmoidostomy.

We report quadriparesis as a result of severe hypokalaemia and acidosis in a 50-year-old man who had undergone ureterosigmoidostomy for bladder extrophy 48 years earlier. Aggressive suppletion with intravenous potassium and bicarbonate combined with potassium-sparing diuretics and ACE inhibitors resulted in complete restoration of the serum potassium and resolution of the neurological symptoms. The underlying mechanism as well as the treatment of hypokalaemia and hyperchloraemic metabolic acidosis after ureterosigmoidostomy are briefly discussed.