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1.
Harefuah ; 158(10): 630-634, 2019 Oct.
Artigo em Hebraico | MEDLINE | ID: mdl-31576706

RESUMO

AIMS: To describe three interventions that have improved the quality of the internship. BACKGROUND: All medical school graduates are required to take a one year internship, rotating through various hospital departments. By various objective and subjective measures, the quality, benefit and efficacy of the internship varies significantly between departments and hospitals and also depends on where the interns studied. METHODS: The interventions were: First, all graduates of foreign medical schools (FMG) were required to interview and present a patient, demonstrating practical knowledge of spoken and written Hebrew and basic medical terminology prior to the start of the internship. Second, on the first day of their internship in internal medicine the new interns participate in an orientation day, addressing multiple clinical, administrative and other components. Third, upon the completion of their rotation in internal medicine, the interns participate in an interactive session to help them prepare for their future career. RESULTS: First, during the first 3 years after introducing the Hebrew test, 101 FMGs took the test, 89 (88%) passed the first time, the remainder passed the 2nd or 3rd test after another 1-3 months of studying Hebrew. Of 31 women, 30 (97%) passed the first time, compared to 59/70 (84%) of the men (p=0.065); 27/28 (96%) of Jewish interns passed the first time compared to 62/73 (85%) non-Jewish interns (p=0.99). Physicians report on the significantly increased ability of FMGs to participate in all activities from the onset of their internship. Second, upon completion of the orientation, 137 interns provided feedback of its 12 components; satisfaction was marked on a Likert scale (ranging from 1 [low] to 5 [high]) and ranged from 4.2±0.1 to 4.7±0.6; high/very high satisfaction with the various components ranged from 79% to 96%. Third, feedback was provided by 96 interns after participating in the interactive session helping to prepare for the future; satisfaction with the 5 components of the session ranged from 3.8±0.8 (on the acquired insight into the possibilities, scope and limitations regarding their future career) to 4.5±0.7 (regarding the relevance of such sessions). Sub-analysis revealed several statistically significant differences between male and female interns (male interns indicated these sessions to be more important to them than females, p<0.01), and FMG (as compared to graduates from Israeli medical schools) indicated that they had acquired relevant information more often (p<0.001). CONCLUSIONS: Various interventions positively impact the quality, benefit and efficacy of the internship as observed by physicians working with the residents, as well as perceived by the interns themselves.


Assuntos
Internato e Residência , Faculdades de Medicina , Competência Clínica , Feminino , Humanos , Medicina Interna , Masculino , Satisfação Pessoal
3.
Harefuah ; 157(6): 356-360, 2018 Jun.
Artigo em Hebraico | MEDLINE | ID: mdl-29964373

RESUMO

AIMS: To collect data on the expectations of interns at the onset of their internship regarding their professional future and the actual realization of these expectations of medical graduates who completed their internship in one medical center during the years 2010-2015. BACKGROUND: The internship year may have great importance in the decision-making process regarding selection of future residency. Previous research conducted 10-20 years ago involved graduates of Israeli medical schools. In the current era up to 50% of interns are foreign medical graduates (FMG), and it is not clear whether all of these professionals find a residency or employment according to their wishes. METHODS: Our hospital's database includes demographic details of all 237 graduates of the aforementioned years, according to gender (64% male); medical school (Israeli 50%); and ethnicity (Jewish, 66%). The aim of the study was to call all graduates according to the telephone numbers in the database and obtain relevant information on the basis of a pre-arranged script and with a standardized questionnaire to achieve uniform collection of data. RESULTS: Of 237 graduates, 151 (64%) responded, of whom 101 (64%) were male, 90 (60%) were Jewish, and 80 (54%) were FMG. Most interns had decided on a future career at the onset of their internship (114, 75%), but at its completion this rate had decreased to 88 (59%). Their preferences included surgical specialties 40 (36%), pediatrics 34 (30%), internal medicine 22 (19%), family practice 9 (8%), and other specialties 8 (7%). At the conclusion of the internship 108 (75%) immediately started a residency program; the remainder started employment in the community not within the context of a residency. A high degree of satisfaction was examined for three factors: personal relations and ethics - 114 (76%), professional learning - 108 (72%) and counseling regarding their professional future - 46 (31%). At the onset of their internship,) 75 77%( of the men and 46 )75%( of the women had decided upon their future career, without major change by the year's end. In reality, 43 (84%) of the women started a residency, but only 63 (65%) of the men (p=0.013). At the start of the year 67 (77%) of the Jewish interns and 46 (75%) of the Arab interns had decided on a future career; at the end of the year, the rate for Jewish interns had increased to 74 (85%) and it had decreased to 31 (67%) for Arab interns (p=0.026). Of the Jewish sector 74 (85%) had actually started a residency, as compared to 33 (54%) of the Arab sector (p<0.001) and 26 (43%) Arab graduates started work in the community not within the context of a residency. The rate of Israeli graduates who at onset of their internship had decided on their future choice was similar to that of FMG, 55 (82%) as compared to, respectively, 58 (73%) (Non significant), but at the end of the year a significant gap had opened up, 47 (86%) vs. 40 (52%), respectively (p=0.04). In addition, and not surprisingly, there were significant differences in the three measures of satisfaction between the Israeli and foreign graduates. CONCLUSIONS: During the internship year significant differences emerge between the interns, according to gender, ethnic background or the country they had studied medicine. Improved counseling could possibly help interns to secure optimal employment, especially for foreign medical graduates.


Assuntos
Escolha da Profissão , Medicina Interna , Internato e Residência , Criança , Medicina de Família e Comunidade , Feminino , Humanos , Masculino , Faculdades de Medicina , Inquéritos e Questionários
4.
Ann Clin Microbiol Antimicrob ; 16(1): 68, 2017 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-28978355

RESUMO

BACKGROUND: Streptococcus gordonii is an infrequent cause of infective endocarditis (IE); associated spondylodiskitis has not yet been described in the literature. PURPOSE: We describe 2 patients who presented with new-onset, severe back pain; blood cultures revealed S. gordonii bacteremia, which led to the diagnosis of spondylodiskitis and IE. We review our 2-decade experience with S. gordonii bacteremia to describe the clinical and epidemiological characteristics of these patients. RESULTS: In our hospital over the last 20 years (1998-2017), a total of 15 patients with S. gordonii bacteremia were diagnosed, including 11 men and 4 women, and the mean age was 65 ± 22 (range 23-95). The most common diagnosis was IE (9 patients), spondylodiskitis (the presented 2 patients, who in addition were diagnosed with endocarditis), necrotizing fasciitis (1), sternitis (1), septic arthritis (1) and pneumonia (1). The 11 patients with IE were treated with penicillin ± gentamicin, or ceftriaxone for 6 weeks, 5 required valve surgery and 10/11 (91%) attained complete cure. The 2 patients with diskitis required 2-3 months of intravenous antibiotics to achieve complete cure. CONCLUSION: Spondylodiskitis was the presenting symptom of 2/11 (18%) patients with S. gordonii endocarditis. Spondylodiskitis should probably be looked for in patients diagnosed with S. gordonii endocarditis and back pain as duration of antibiotic treatment to achieve complete cure may be considerably longer.


Assuntos
Discite/etiologia , Discite/microbiologia , Endocardite Bacteriana/etiologia , Endocardite Bacteriana/microbiologia , Infecções Estreptocócicas/complicações , Streptococcus gordonii/patogenicidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Antibacterianos/uso terapêutico , Artrite Infecciosa , Bacteriemia/tratamento farmacológico , Discite/tratamento farmacológico , Discite/epidemiologia , Endocardite Bacteriana/tratamento farmacológico , Endocardite Bacteriana/epidemiologia , Fasciite Necrosante , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pneumonia , Infecções Estreptocócicas/tratamento farmacológico , Infecções Estreptocócicas/epidemiologia , Streptococcus gordonii/efeitos dos fármacos , Adulto Jovem
5.
Isr Med Assoc J ; 19(1): 25-29, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28457110

RESUMO

BACKGROUND: Cigarette smoking is a widespread problem around the world. In Israel, the prevalence of smoking is 23%. Smokers who are Orthodox abstain from smoking during the Sabbath, i.e., from sundown Friday to sundown Saturday, due to a religious prohibition. The prevalence of smoking among Orthodox men is 13%. However, there are no data on patterns of smoking or on the addiction profiles in this population. OBJECTIVES: To explore the smoking patterns, motivation for smoking and nicotine addiction among Orthodox Jewish men, compared to non-Orthodox men, as well as the differences in the urge to smoke and withdrawal symptoms on Saturday versus weekdays in the Orthodox group. METHODS: The participants completed the Fagerstrom test for nicotine dependence, questionnaires on reasons for smoking and smoking patterns, as well as two brief questionnaires on the urge to smoke and withdrawal symptoms after overnight abstinence on a weekday and after the end of the Sabbath. RESULTS: Both groups were strongly addicted to nicotine and there were no differences in the reasons for smoking, withdrawal symptoms and nicotine craving after an overnight abstinence on weekdays. However, religious smokers had low levels of craving for nicotine and few withdrawal symptoms during Sabbath abstinence when compared to weekdays. CONCLUSIONS: Although we found no difference in the baseline characteristics with regard to nicotine addiction, smoking motivation, urge to smoke and withdrawal symptoms between religious and non-religious groups, the former are able to abstain from smoking during 25 hours of the Sabbath every week with significantly fewer withdrawal symptoms compared to week days.


Assuntos
Fissura , Judaísmo , Abandono do Hábito de Fumar/etnologia , Síndrome de Abstinência a Substâncias/etiologia , Adulto , Estudos de Casos e Controles , Humanos , Israel , Judeus , Masculino , Fumar/efeitos adversos
6.
J Am Geriatr Soc ; 65(2): 427-432, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28032889

RESUMO

OBJECTIVES: To compare the effect of a five-bed geriatric monitoring unit (MU) on in-hospital mortality and length of stay with the effect of usual care in a geriatric hospital department and a medical MU. DESIGN: Prospective, case-control, noninterventional study. PARTICIPANTS: All individuals hospitalized for 24 hours or longer in the geriatric MU (n = 89, aged 53-101, mean age 82.2 ± 9.6) over a period of 5 months (January-May 2015); individuals admitted to the geriatric department (n = 178, aged 55-100, mean age 83.2 ± 9.8), matched at a ratio of 1:2 according to sex, age ±5 years, and need for mechanical ventilation; and individuals admitted to a similar five-bed medical MU (n = 95, aged 35-90, mean age 68.2 ± 14.4) during the same period. MEASUREMENTS: Primary outcome was in-hospital mortality. RESULTS: The predicted death rate was 49 ± 26 for participants in the geriatric MU, 39.6 ± 27 for those in the medical MU (P = .02), and 36.7 ± 27 for those in the geriatric department (P < .001). Observed in-hospital mortality was higher for geriatric MU participants (n = 40, 44.9%) than for the department control group (n = 48, 27%) (P = .002), although the mortality ratios (actual divided by predicted death rates) of these two groups were similar, indicating that the more severely ill participants in the geriatric MU did better than control participants in the departments, in particular those requiring hemodynamic pressure support and those with acute renal failure. CONCLUSION: For elderly, severely ill adults, care in a geriatric MU was associated with lower in-hospital mortality than care in the hospital geriatric ward and a longer stay and may be an alternative to medical MU admission.


Assuntos
Estado Terminal/terapia , Geriatria , Unidades Hospitalares , Hospitalização , Idoso , Idoso de 80 Anos ou mais , Cardiotônicos/uso terapêutico , Estudos de Casos e Controles , Sedação Consciente/estatística & dados numéricos , Uso de Medicamentos , Mortalidade Hospitalar , Humanos , Israel , Tempo de Internação , Pessoa de Meia-Idade , Estudos Prospectivos
7.
Endocr Pract ; 22(12): 1429-1435, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27631841

RESUMO

OBJECTIVE: Elderly patients have a high prevalence of hypernatremia. The aim of this study was to determine demographic and clinical characteristics of the elderly hypernatremic patient hospitalized in the internal medicine ward and to enhance understanding of the role of antidiuretic hormone (ADH) secretion in the pathogenesis of hypernatremia. METHODS: Case-control study performed in an internal medicine ward in a university-affiliated hospital. Thirtythree elderly hypernatremic patients (admission sodium, >150 mEq/L; age, >70 years) were compared with 34 normonatremic patients. Demographic, functional (mental status and activities of daily living), clinical data (Acute Physiology and Chronic Health Evaluation [APACHE] II score), and serum copeptin levels as a marker of ADH secretion, were collected at admission. Mortality and change in the functional status were followed up to 30 days from discharge. RESULTS: Patients with hypernatremia presented with significantly lower baseline functional and cognitive states and higher APACHE II score (21.3 ± 8.6 vs. 15.4 ± 6.7; P<.01). Mortality within 30 days after discharge was higher in the hypernatremic group (58% vs. 32%; P<.05). Higher copeptin levels were found in the hypernatremic group compared to the normonatremic group (100.2 ± 60.6 pmol/L vs. 66.5 ± 57.2 pmol/L; P<.05). High levels of copeptin were associated with higher in-hospital (P<.05) and 30-day (P<.01) mortality. Sodium levels were found correlated with copeptin levels; yet, an even stronger correlation was found between copeptin levels and APACHE II score (r = 0.52; P<.001). CONCLUSION: Hypernatremia in the elderly at admission is associated with a high mortality rate. Copeptin level in the elderly seems to be a good single disease severity marker. ADH is strongly secreted in elderly hypernatremic patients. ABBREVIATIONS: ADH = antidiuretic hormone APACHE = Acute Physiology and Chronic Health Evaluation.


Assuntos
Glicopeptídeos/sangue , Hospitalização/estatística & dados numéricos , Hipernatremia , Índice de Gravidade de Doença , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Mortalidade Hospitalar , Humanos , Hipernatremia/sangue , Hipernatremia/epidemiologia , Hipernatremia/mortalidade , Masculino , Vasopressinas/metabolismo
9.
Isr Med Assoc J ; 18(8): 479-483, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28471580

RESUMO

BACKGROUND: Medical history-taking is an essential component of medical care. OBJECTIVES: To assess and improve history taking, physical examination and management plan for hospitalized patients. METHODS: The study consisted of two phases, pre- and post- intervention. During phase I, 10 histories were evaluated for each of 10 residents, a total of 100 histories. The assessment was done with a validated tool, evaluating history-taking (maximum 23 points), physical examination (23 points), assessment and plan (14 points) (total 60 points). Subsequently, half of these residents were informed that they were assessed; they received their scores and were advised regarding areas needing improvement. Phase II was identical to phase I. The primary endpoint was a statistically significant increase in score. RESULTS: In the study group (receiving feedback after phase I) the physical examination improved from 9.3 ± 2.4 in phase I to 10.8 ± 2.2 in phase II (P < 0.001), while in the control group there was no change (11.3 ± 1.9 to 11.5 ± 1.8 respectively, P = 0.59). The assessment and plan component improved in the study group from 6.4 ± 2.7 in phase I to 7.4 ± 2.6 in phase II (P = 0.05), while no change was observed in the control group (8.2 ± 2.7 and 7.8 ± 2.3, P = 0.43). Overall performance improved in the study group from 30.4 ± 5.1 in phase I to 32.9 ± 4.5 in phase II (P = 0.01), a 10% improvement, while no change was observed in the control group (35.5 ± 6.0 to 34.6 ± 4.1, P = 0.4). CONCLUSIONS: A review of medical histories obtained by residents, assessed against a validated score and accompanied by structured feedback may lead to significant improvement.


Assuntos
Competência Clínica/estatística & dados numéricos , Internato e Residência/métodos , Anamnese/métodos , Avaliação Educacional/métodos , Feminino , Humanos , Internato e Residência/normas , Masculino , Anamnese/normas , Exame Físico/métodos , Exame Físico/normas
11.
Endocrine ; 48(2): 444-53, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25091521

RESUMO

The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor with a crucial role in calcium homeostasis. Mutations in the CaSR gene may lead to specific parathyroid disorders due to either gain-of-function (autosomal dominant hypercalciuric hypocalcemia; ADHH) or loss-of-function (familial hypocalciuric hypercalcemia; FHH). Our aim was to evaluate CaSR mutations as a cause of disease in selected patients. We identified and recruited patients with phenotypes suggestive of CaSR-related parathyroid disorders. DNA was extracted, and CaSR gene was sequenced. Live-ratiometric measurements of intracellular [Ca(2+)] and Western blot assays for evaluation of MAPK phosphorylation in response to changes in extracellular [Ca(2+)] were performed in transiently transfected HEK-293T cells to functionally characterize mutants. A total of 21 patients were evaluated, seven of them with idiopathic hypoparathyroidism (suspected ADHH) and 14 with hyperparathyroidism (suspected FHH). In the latter group two patients were found to harbor missense mutations: a novel heterozygous I32 V mutation in a female index case and a sporadic known R185Q mutation in a 1-year-old girl. In-vitro functional studies showed that I32 V is an inactivating mutation. In our study, most patients had normal CaSR sequencing. This suggests that phenotypic pitfalls may occur at time of patients' selection for CaSR sequencing. In one patient with strong positive pre-test probability based on both familial history and appropriate phenotype, a novel I32 V mutation leading to FHH was identified and characterized. In cases of familial parathyroid disorders, CaSR sequencing should be performed, but if negative, one should consider involvement of alternative genes or mechanisms.


Assuntos
Hipercalcemia/congênito , Hiperparatireoidismo/genética , Hipoparatireoidismo/genética , Receptores de Detecção de Cálcio/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Hipercalcemia/genética , Hipercalciúria/genética , Hiperparatireoidismo/congênito , Hipocalcemia/genética , Hipoparatireoidismo/congênito , Masculino , Pessoa de Meia-Idade , Mutação , Análise de Sequência de DNA , Adulto Jovem
13.
Harefuah ; 153(3-4): 159-62, 239, 2014.
Artigo em Hebraico | MEDLINE | ID: mdl-24791555

RESUMO

BACKGROUND: The specialty and practice of internal medicine have been subject to serious challenges in the last two decades. METHODS: We describe the integrative model of internal medicine as developed in our hospital, providing solutions to some major challenges. RESULTS: Major components include: (1) Senior physicians and residents are employed by the Division rather than individual Departments of Medicine, allowing for balanced distribution of professional capabilities. (2) Two medical departments specialize in geriatric medicine, while the other departments take care of younger, more intellectually challenging patients. Senior and junior staff members rotate through these departments, allowing for exposure to different patient populations and professional expertise. (3) The backbone of senior physicians is rewarded by a set of incentives, including dedicated time for research. (4) Senior staff from the subspecialties contributes annually 1-2 months as senior physicians in the departments and receive academic and other compensation for their efforts. (5) In cases where medical departments elsewhere are flooded with corridor admissions (a source of frustration and burnout), a short admission unit in the emergency department relieves internal medicine pressures and shortens evaluation and therapy for many patients. CONCLUSION: Our integrative model of internal medicine allows for improved patient and staff distribution, greater satisfaction among patients and family members, greater professional satisfaction among physicians, while resident vacancies are filled with competent residents.


Assuntos
Centros Médicos Acadêmicos/organização & administração , Prestação Integrada de Cuidados de Saúde/organização & administração , Medicina Interna/organização & administração , Modelos Organizacionais , Fatores Etários , Competência Clínica , Serviço Hospitalar de Emergência/organização & administração , Geriatria/organização & administração , Departamentos Hospitalares/organização & administração , Humanos , Internato e Residência/organização & administração , Israel , Satisfação no Emprego , Satisfação do Paciente
16.
Isr Med Assoc J ; 14(12): 752-6, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23393714

RESUMO

BACKGROUND: Frequent readmissions significantly contribute to health care costs as well as work load in internal medicine wards. OBJECTIVE: To develop a simple scoring method that includes basic demographic and medical characteristics of elderly patients in internal medicine wards that would allow prediction of readmission within 3 months of discharge. METHODS: We conducted a retrospective observational study of 496 hospitalized patients using data collected from discharge letters in the computerized archives. Univariate and multivariate logistic regression analyses were performed and factors that were significantly associated with readmission were selected to construct a scoring tool. Validity was assessed in a cohort of 200 patients. RESULTS: During a 2 year follow-up 292 patients were readmitted at least once within 3 months of discharge. Age 80 or older, any degree of impaired cognition, nursing home residence, congestive heart failure, and creatinine level > 1.5 mg/dl were found to be strong predictors of readmission. The presence of each variable was scored as 1. A score of 3 or higher in the derivation and validation cohorts corresponded with a positive predictive value of 80% and 67%, respectively, when evaluating the risk of rehospitalization. CONCLUSIONS: We propose a practical, readily available five-item scoring tool that allows prediction of most unplanned readmissions within 3 months. The strength of this scoring tool, as compared with previously published scores, is its simplicity and straightforwardness.


Assuntos
Previsões/métodos , Departamentos Hospitalares/estatística & dados numéricos , Hospitais de Ensino/estatística & dados numéricos , Medicina Interna , Readmissão do Paciente/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Risco
19.
Endocr Relat Cancer ; 13(2): 535-40, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16728580

RESUMO

Imatinib mesylate (IM), a small molecule that is a selective inhibitor of the ABL, platelet derived growth factor receptor (PDGFR-R) and stem cell ligand receptor (c-kit) tyrosine kinases (TK). IM was also found to inhibit the TK activity of BCR/ABL fusion protein produced in chronic myelogenous leukemia, with marked clinical activity against the disease. Since both PDGF-R and c-kit both having a putative role in tumorigenesis, we investigated the efficacy and safety of the use of IM in patients with endocrine tumors unresponsive to conventional therapies that expressed c-kit and/or PDGF-R (within the framework of a comprehensive phase II multi-center study of IM in patients with solid tumors). IM was initiated at a dose of 400 mg/day, with possible dose escalation within 1 week to 600 mg/day and an option to raise the dose to 800 mg/day in the event of progression and in the absence of safety concerns for a period of up to 12 months. Between September 2002 and July 2003, 15 adult patients with disseminated endocrine tumors were recruited as follows: medullary thyroid carcinoma (MTC, n = 6); adrenocortical carcinoma (ACC, n = 4); malignant pheochromocytoma (pheo, n = 2); carcinoid (non-secreting, n = 2), neuroendocrine tumor (NET, n = 1). No objective responses were observed. MTC--disease progression in 4 patients, and treatment discontinuation in 2 patients due to adverse events; ACC--disease progression in 3 patients, and treatment discontinuation in 1 patient due to severe psychiatric adverse event; Pheo--disease progression in 2 patients; Carcinoid--stable disease in 1 patient (6.5 months), and disease progression in 1 patient; NET--disease progression in 1 patient. IM does not appear to be useful for treatment of malignant endocrine tumors, also causing significant toxicity in this patient population.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias das Glândulas Endócrinas/tratamento farmacológico , Piperazinas/uso terapêutico , Inibidores de Proteínas Quinases/uso terapêutico , Pirimidinas/uso terapêutico , Adolescente , Adulto , Idoso , Antineoplásicos/toxicidade , Benzamidas , Neoplasias das Glândulas Endócrinas/química , Feminino , Humanos , Mesilato de Imatinib , Masculino , Pessoa de Meia-Idade , Piperazinas/toxicidade , Inibidores de Proteínas Quinases/toxicidade , Proteínas Proto-Oncogênicas c-kit/análise , Pirimidinas/toxicidade , Receptores do Fator de Crescimento Derivado de Plaquetas/análise , Resultado do Tratamento
20.
J Clin Endocrinol Metab ; 89(8): 4025-30, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15292344

RESUMO

Familial hyperkalemia and hypertension (FHH; pseudohypoaldosteronism type II) is an autosomal dominant disorder characterized by hyperkalemia, hypertension, and low renin. WNK1 kinase overexpression and WNK4 kinase inactivating missense mutations cause FHH. When expressed in frog oocyte, WNK4 inhibits Na-Cl cotransporter surface expression, and WNK1 relieves this inhibition. We have reported hypercalciuria in subjects with the WNK4 Q565E mutation. In contrast, in subjects with WNK1 overexpression, normocalciuria was found. Here we report a major extension of our previously described kindred that contains 34 subjects, 18 of them affected by the mutation. Hypertension was diagnosed in 13 affected subjects at the age of 31 +/- 12 yr. Five of the affected or obligatory affected subjects had stroke, in four at the age of 50-62 yr. Seven subjects with FHH were diagnosed 27 yr previously. All four subjects who were normotensive at diagnosis became hypertensive during follow-up. The mean time between detection of hyperkalemia and appearance of hypertension was 13 yr. In the extended kindred, compared with the unaffected subjects, affected subjects had hyperkalemia, low transtubular potassium gradient, hyperchloremia, low bicarbonate, higher aldosterone, and marked suppression of renin. Urinary calcium levels in affected and unaffected subjects were 0.85 +/- 0.27 and 0.28 +/- 0.12 mmol/mmol creatinine, respectively (P < 0.0001). Hypercalciuria was accompanied by lower serum calcium levels [9.44 +/- 0.15 vs. 9.81 +/- 0.31 mg/dl (2.36 +/- 0.04 vs. 2.45 +/- 0.08 mmol/liter); P = 0.01], supporting a mechanism of renal calcium leak. The six affected, currently normotensive subjects had the same degree of hyperkalemia, hypercalciuria, and low renin as the affected hypertensive subjects. We conclude that in FHH with WNK4 mutations, with time all affected subjects will apparently develop hypertension. Hypercalciuria accompanies hyperkalemia, and both precede hypertension. Based on the recent findings that WNK4 regulates the renal outer medullary potassium channel as well as epithelial Cl(-)/base exchanger and the Na(+)-K(+)-2Cl(-) cotransporter, we suggest that WNK4 interacts with a calcium channel or transporter.


Assuntos
Distúrbios do Metabolismo do Cálcio/genética , Cálcio/urina , Hiperpotassemia/genética , Hipertensão/genética , Mutação , Proteínas Serina-Treonina Quinases/genética , Adulto , Feminino , Ácido Glutâmico , Glutamina , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem
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