A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.

BACKGROUND: There have been still few case reports of pseudohypoaldosteronism type II (PHA2), also known as Gordon's syndrome, genetically diagnosed, and this is the first report of familial PHA2 case in Japan with a novel D564N mutation in WNK4. METHODS: A 29-year-old woman was admitted to our hospital due to hyperkalemia (serum potassium: 6.4 mmol/L). She had mild hypertension (135/91 mm Hg), a bicarbonate level at the lower limit of the normal range (HCO3 : 22 mmol/L) with a normal anion gap, low plasma renin activity (0.2 ng ml-1  hr-1 ), and high urinary calcium excretion (505.4 mg/g Cre). A hereditary condition was suspected because her mother also had the same symptoms. We performed a comprehensive genetic analysis for major inherited kidney diseases with next-generation sequencing including the genes responsible for PHA2 (WNK1, WNK4, KLHL3, and CUL3). RESULTS: Genetic analysis revealed that the patient and her mother had a novel missense mutation (D564N) in the acidic motif in WNK4, which leads to the diagnosis of PHA2. Administration of trichlormethiazide (1 mg/day) effectively ameliorated her blood pressure (114/69 mm Hg), plasma bicarbonate (25 mmol/L), serum potassium (4.3 mmol/L), and urinary calcium excretion (27.2 mg/g Cre). CONCLUSION: We report the first Japanese familial case of PHA2 with WNK4 mutation. D564N mutation in WNK4 is a novel genetic cause of PHA2 with a relatively mild phenotype.

A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island / Journal of Rural Medicine

Background: Gitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy resulting from mutations in the thiazide-sensitive Na-Cl cotransporter (NCC) gene. Notably, lack of awareness regarding GS and difficulty with prompt diagnosis are observed in clinical practice, particularly in rural settings.Case presentation: We report a case of a 48-year-old man with GS who presented to a local clinic on a remote island. Occasional laboratory investigations incidentally revealed a reduced serum potassium level of 2.6 mmol/L. A careful medical interview revealed episodes of intermittent paralysis of the lower extremities and muscular weakness for >30 years. Subsequent laboratory investigations revealed hypomagnesemia, hypocalciuria, and hypokalemic metabolic alkalosis. Based on the patient’s history, clinical presentation, and laboratory investigations, we suspected GS. Genetic testing revealed a rare homozygous in-frame 18 base insertion in the NCC gene that might have resulted from the founder effect, consequent to his topographically isolated circumstances.Conclusion: More case studies similar to our study need to be added to the literature to gain a deeper understanding of the functional consequences of this mutation and to establish optimal management strategies for this condition, particularly in rural clinical settings.

Infective endocarditis in a patient with lupus nephritis who was undergoing immunosuppressive therapy: A case of survival / Journal of Rural Medicine

<p>Systemic lupus erythematosus is an autoimmune disease associated with mild valvular regurgitation. However, there have been no detailed reports of infective endocarditis in patients with systemic lupus erythematosus. Here, we describe a case of a 55-year-old woman without any cardiac abnormalities who was diagnosed with lupus nephritis by renal biopsy; she contracted infective endocarditis while receiving immunosuppressive therapy. Our case emphasizes that special consideration of the occurrence of infective endocarditis, and its early diagnosis and treatment are mandatory for patient survival. We propose that echocardiography should be performed before treating patients with systemic lupus erythematosus who have an uncertain cardiac status.</p>

Retroperitoneal Fibrosis in Chronic Kidney Disease / General Medicine

We report two cases of retroperitoneal fibrosis that emerged during a clinical course of moderate chronic kidney disease. In both cases, we observed an elevation in the serum CRP and IgG4 levels without an increase in the white blood cell count. The patients were treated with prednisolone. Their clinical conditions improved with a decrease in the serum IgG4 to total IgG ratio. The present cases suggest the importance of a differential diagnosis of retroperitoneal fibrosis in the medical care of chronic kidney disease patients, and we propose a useful biomarker for retroperitoneal fibrosis, which we suspect is associated with IgG4-related disease.

A retrospective study of 221 hospitalized patients with fever in the Department of General Practice at Jichi Medical University Hospital / 日本プライマリ・ケア連合学会誌

<b><i>Abstract</i></b><br><b>Objective</b> : To investigate the causes of fever of inpatients hospitalized in the Department of General Practice at Jichi Medical University Hospital.<br><b>Methods</b> : We reviewed all medical records of the patients hospitalized in the Department of General Practice at this hospital between April 2003 and March 2004. Patients were selected as the “febrile group” by following criteria, 1) body temperature exceeded 37.5°C on admission, 2) fever and fever of unknown origin (FUO) were included in the clinical problems, and the causes of fever were described.<br><b>Results</b> : A total of 464 patients were hospitalized and 221 patients (47.6%) were categorized as the “febrile group”. The most common cause of fever was infection (67.4%), followed by malignant disease (4.1%), collagen disease (3.2%), miscellaneous diseases (10.4%). 26 patients were classified as fever of unknown origin (FUO). Among FUO patients, collagen disease was the most common cause (34.6%), and undiagnosed cases was 26.9% that was similar to past reports. Although the rates of malignant disease and collagen disease were about sixteen percent in each generation from thirties to fifties as the cause of fever, only one patient met the criteria of classical FUO.<br><b>Conclusions</b> : The most common cause of fever was infection. Systematic survey including hospitalization is needed early in case an outpatient doesn't cure fever unexpectedly. Noninfectious inflammatory diseases emerge as an important category of the causative disease of FUO.