Validation and adaptation of the Spanish version of the systemic lupus activity questionnaire (S-SLAQ) in an Argentinean population.

OBJECTIVES: To validate the systemic lupus activity questionnaire (SLAQ) in Spanish language. METHODS: The SLAQ questionnaire was translated and adapted in Spanish. Consecutive SLE patients from 8 centers in Argentina were included. A rheumatologist completed a Systemic Lupus Activity Measure (SLAM), Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)-2K, and a physician's assessment. Reliability was assessed by internal consistency (Cronbach's alpha), stability by test-retest reliability (intraclass correlation coefficient), and construct validity by evaluating the correlation with clinically relevant scores. Sensitivity and specificity for clinically significant disease activity (SLEDAI ≥6) of different S-SLAQ cut-off points were evaluated. RESULTS: We included 97 patients ((93% female, mean age: 40 years (SD14.7)). Internal consistency was excellent (Cronbach's alpha = 0.84, p < 0.001), and the intraclass correlation coefficient was 0.95 (p < 0.001). Mean score of S-SLAQ was 8.2 (SD 7.31). Correlation of S-SLAQ was moderate with Patient NRS (r= 0.63 p< 0.001), weak with SLAM-no lab (r = 0.42, p <0.001) and SLAM (r = 0.38, p < 0.0001), and very weak with SLEDAI-2K (r = 0.15, p =0.1394). Using the S-SLAQ cutoff of five points, the sensitivity was 72.2% and specificity was 37.9%, for clinically significant disease activity. CONCLUSIONS: The S-SLAQ showed good validity and reliability. A good correlation, similar to the original instrument, was observed with patient´s global disease activity. No correlation was found between S-SLAQ and gold standard disease activity measures like SLEDAI-2K and SLAM. The S-SLAQ cutoff point of 5 showed a good sensitivity to identify the active SLE population and therefore could be an appropriate screening instrument for disease activity in clinical and epidemiological studies.

Estenosis de las arterias cubital y radial en pacientes con esclerosis sistémica, comparado con un grupo control / Ulnar and radial stenosis in systemic sclerosis

Objetivos: describir la frecuencia de estenosis arterial (cubital y radial) en pa-cientes con esclerosis sistémica (ES); analizar la relación entre estenosis macro-vascular y úlceras digitales. Método: se incluyeron 57 pacientes con ES, según la clasificación del Colegio Americano de Reumatología de 1980 y 21 pacientes sin ES. Se realizó ecografía doppler arterial de miembros superiores. Resultados: la estenosis en al menos una arteria cubital se objetivó en 31% de pacientes con ES (18/57) (p=0.003). Se objetivó estenosis radial en 9 de 57 pacientes con ES (15%) y en uno de los 21 controles (p=0.19). En el modelo multivariado, los predicto-res de úlceras digitales fueron inicio de Raynaud antes de los 40 años (OR 5.3 IC95% 1.54-18.22, p=0.008) y patrón tardío en la capilaroscopia (OR 4.4 IC95% 1.29-15.63, p=0.018). Conclusiones: un tercio de los pacientes ES presentó este-nosis cubital. El compromiso de los grandes vasos no se asoció a úlceras digitales.

Objectives: to describe the frequency of ulnar and radial stenosis in SSc patients. Analyze the correlation between arterial stenosis and digital ulcers. Methods: we included 57 SSc consecutive patients who fulfilled ACR 1980 classification criteria, and 21 healthy controls. An arterial ecodoppler was performed to all participants. Results: the presence of stenosis in at least one ulnar artery was observed in 18 of 57 patients with SSc (31%) and in none of the 21 controls (p=0.003). Stenosis was present in at least one radial artery in 9 of 57 SSc patients (15%) (p=0.19). In multivariate model, the best predictors of digital ulcers were age at onset of Ray-naud phenomenon before 40 years (OR 5.3 95%CI 1.54-18.22, p=0.008) and late SD pattern (OR 4.4 95%CI 1.29-15.63, p=0.018). Conclusion: in the present series, ulnar stenosis was observed frequently in SSc patients. Stenosis of large vessels was not associated with digital ulcers.

Manifestaciones cutáneas extraglandulares en pacientes con síndrome de Sjögren primario / Extraglandular cutaneous manifestations in patients with primary Sjögren's syndrome

RESUMEN Objetivos: Describir la frecuencia de manifestaciones cutáneas extraglandulares en pacientes con síndrome de Sjögren primario. Determinar el perfil clínico y de laboratorio de los pacientes que presentan estas manifestaciones en comparación con aquellos que no las presentan. Materiales y métodos: Se analizaron los datos de los pacientes incluidos en la base GESSAR (Grupo de Estudio Síndrome de Sjögren de la Sociedad Argentina de Reumatología). Para la comparación entre grupos, los controles se seleccionaron en forma aleatoria con una relación casos: controles de 1:4. A su vez, se compararon los pacientes con púrpura con los controles. Resultados: Sesenta y siete (14,1%) de los 474 pacientes incluidos en la base de datos tuvieron manifestaciones cutáneas extraglandulares. De ellos, el 58% tuvo púrpura. La artritis, la neuropatía, el descenso de C3 y de C4, y la crioglobulinemia fueron estadísticamente más frecuentes en los casos en comparación con los controles; sin embargo, no se encontró asociación independiente con ninguna de estas variables. En lo que respecta a púrpura, la artritis, la neuropatía periférica, la anemia, el descenso de C3 y de C4, anti-La y crioglobulinemia fueron estadísticamente más frecuentes en comparación con los controles. Solo el descenso de C4 y la positividad de crioglobulinas se asociaron en forma independiente a la presencia de púrpura. Conclusión: El 14% de los pacientes presentaron manifestaciones cutáneas extraglandulares. La púrpura fue la manifestación más frecuente. Esta se asoció en forma independiente con el descenso de C4 y la presencia de crioglobulinas.

ABSTRACT Objectives: To describe the frequency of extra-glandular cutaneous manifestations in patients with primary Sjögren's syndrome. To determine the clinical and laboratory profile of patients who present with these manifestations compared to those who do not. Materials and methods: A study was made of patients included in GESSAR database (Sjögren Syndrome Society of Argentina Rheumatology Study Group) were analyzed. For the comparison between groups, the controls were randomly selected, with a case:control ratio of 1:4. Patients with purpura were compared with controls. Results: A total of 67 (14.1%) of the 474 patients included in the database had extra-glandular cutaneous manifestations. Of them, 58% had purpura. Arthritis, neuropathy, a decrease in C3 and C4 levels, and the presence of cryoglobulins, were statistically more frequent in cases compared to controls, although there was no independent association found with any of these variables. As regards purpura, arthritis, peripheral neuropathy, anaemia, decrease in C3 and C4, anti-La, and cryoglobulinemia were statistically more frequent compared to controls. Only the decrease in C4, and the presence of cryoglobulins were independently associated with the presence of purpura. Conclusion: Extra-glandular cutaneous manifestations were observed in 14% of the patients. Purpura was the most frequent cutaneous manifestation. This was independently associated with decreased C4 and the presence of cryoglobulins.

Estudio multicéntrico de prevalencia de anticuerpos antirribosomal P en lupus eritematoso sistémico de comienzo juvenil comparado con lupus eritematoso sistémico del adulto / Multicentric prevalence study of anti P ribosomal autoantibodies in juvenile onset systemic lupus erythematosus compared with adult onset systemic lupus erythematosus

Objetivo. Determinar la prevalencia y correlación clínica de los anticuerpos antirribosomal P en lupus eritematoso sistémico (LES) juvenil y compararlos con LES del adulto. Métodos. Se incluyeron en el estudio 30 pacientes con LES juvenil y 92 pacientes con LES del adulto. Consideramos LES de comienzo juvenil a todos aquellos pacientes que comenzaron su enfermedad antes de los 16 años. Se consideraron las manifestaciones clínicas y serológicas que presentaron los pacientes desde el diagnóstico hasta el momento de inclusión en el estudio (manifestaciones acumuladas). El anticuerpo antirribosomal P fue evaluado mediante la técnica de enzimo-inmunoensayo (ELISA). Resultados. La presencia de antirribosomal P fue significativamente mayor en el grupo de pacientes con LES juvenil comparado con LES del adulto (26,7% vs. 6,5%; OR = 5,21 [IC95% = 1,6-16,5], p = 0,003). La alopecía (OR = 10,11; IC95% = 1,25-97) y rash cutáneo (no discoide) (OR = 4,1; IC95% = 1,25-13,89) fueron las únicas manifestaciones clínicas que se asociaron en forma estadísticamente significativa con la presencia del anticuerpo antirribosomal P. Conclusión. Este estudio confirma una mayor prevalencia de anticuerpos antirribosomal P en pacientes con LES juvenil. La alopecia y el rash cutáneo fueros las únicas manifestaciones clínicas asociadas a la presencia de antirribosomal P (AU)

Objective. To investigate the prevalence and associations with clinical manifestations of anti- P ribosomal antibodies in patients with juvenile-onset and adult-onset systemic lupus erythematosus (SLE). Methods. Clinical and serological data of 30 patients with juvenile-onset SLE (age at onset younger than 16 years old) were compared with data of 92 patients with adult-onset SLE. Symptoms occurring during the entire disease course were considered. Anti- P ribosomal antibodies were tested by ELISA. Results. Anti- P ribosomal antibodies were found significantly more often in pediatric-onset SLE patients (26.7% vs. 6.5%; OR = 5.21 [CI95% = 1.6-16.5], p = 0.003). Alopecia (OR = 10.11, CI 95% = 1.25-97) and skin rash (non discoid) (OR = 4.1, CI 95% = 1.25-13.89) were significantly associated with anti- P ribosomal antibodies. Conclusion. Anti-ribosomal P antibodies are more often found in patients with juvenile SLE. Alopecia and skin rash were the only clinical manifestations associated to anti-ribosomal P antibodies (AU)

Multicentric prevalence study of anti P ribosomal autoantibodies in juvenile onset systemic lupus erythematosus compared with adult onset systemic lupus erythematosus.

OBJECTIVE: To investigate the prevalence and associations with clinical manifestations of anti- P ribosomal antibodies in patients with juvenile-onset and adult-onset systemic lupus erythematosus (SLE). METHODS: Clinical and serological data of 30 patients with juvenile-onset SLE (age at onset younger than 16 years old) were compared with data of 92 patients with adult-onset SLE. Symptoms occurring during the entire disease course were considered. Anti- P ribosomal antibodies were tested by ELISA. RESULTS: Anti- P ribosomal antibodies were found significantly more often in pediatric-onset SLE patients (26.7% vs. 6.5%; OR=5.21 [CI95%=1.6-16.5], p=0.003). Alopecia (OR=10.11, CI 95%=1.25-97) and skin rash (non discoid) (OR=4.1, CI 95%=1.25-13.89) were significantly associated with anti- P ribosomal antibodies. CONCLUSION: Anti-ribosomal P antibodies are more often found in patients with juvenile SLE. Alopecia and skin rash were the only clinical manifestations associated to anti-ribosomal P antibodies.

Frecuencia de anticuerpos para diagnóstico de enfermedad celíaca en pacientes con enfermedades del tejido conectivo y artropatías inflamatorias / Serum anti endomysial and anti transglutaminase antibodies in patients with connective tissue diseases

Background: The detection of anti-transglutaminase IgA (tTG) and anti-endomysial (EMA) is used for screening of celiac disease (CD) with a sensitivity and specificity of 90 and 99% respectively. There is an association between CD and connective tissue diseases (CTD). Aim: To report the frequency of IgA tTG and EMA in patients with a definite diagnosis of CTD and inflammatory arthropathies (IA). Material and Methods: One hundred forty nine patients, aged 19 to 86 years (133 females) with CTD and IA were studied. tTG were determined by ELISA and EMA by indirect immunofluorescence. Results: Eight participants had at least one positive antibody (5.4%, confidence intervals (CI) = 1.8-9), six had both (4.0% CI = 0.9-7.2) and two had only tTG positive. An intestinal biopsy was performed in four of these participants, finding a marked villous atrophy in three and partial atrophy in one. Conclusions: Five percent of this group of patients with CTD or IA had positive antibodies for CD.

4G/5G plasminogen activator inhibitor-1 and -308 A/G tumor necrosis factor-α promoter gene polymorphisms in Argentinean lupus patients: focus on lupus nephritis.

We investigated the relationship between the 4G/5G plasminogen activator inhibitor (PAI-1) and -308 A/G tumor necrosis factor-α (TNF-α) polymorphisms and the clinical and biochemical features of systemic lupus erythematosus (SLE) in an Argentinean patient cohort. A total of 402 patients were studied, including 179 SLE patients and 223 healthy individuals. PCR-RLFP was used to determine the genotypes of the 4G/5G PAI-1 and -308 A/G TNF-α polymorphisms. SLE patients with lupus nephritis (LN) (n = 86) were compared with patients without LN (n = 93). Additionally, LN patients were divided into proliferative LN and non-proliferative LN groups according to the results of the renal biopsies. No significant differences were noted in the genotype distributions or allele frequencies of these TNF-α and PAI-1 polymorphisms between SLE patients and controls. There were higher numbers of criteria for SLE, more lupus flares and higher damage scores in LN patients, but there were similar frequencies of anti-phospholipid antibody (APA) positivity and anti-phospholipid syndrome. No significant difference was noted for any studied variable between the proliferative LN and non-proliferative LN groups except for the presence of APA. We found no significant differences in the TNF-α and PAI-1 genotype distributions or allele frequencies between groups. We found that the -308 A/G TNF-α and 4G/5G PAI-1 polymorphisms are not associated with susceptibility to SLE in an Argentinean population. We also did not find any association between the presence of any specific allele or genotype and the development of LN in SLE patients. Finally, no association was noted between either of the two polymorphisms and the severity of renal disease.

[Serum anti endomysial and anti transglutaminase antibodies in patients with connective tissue diseases]. / Frecuencia de anticuerpos para diagnóstico de enfermedad celíaca en pacientes con enfermedades del tejido conectivo y artropatías inflamatorias.

BACKGROUND: The detection of anti-transglutaminase IgA (tTG) and anti-endomysial (EMA) is used for screening of celiac disease (CD) with a sensitivity and specificity of 90 and 99% respectively. There is an association between CD and connective tissue diseases (CTD). AIM: To report the frequency of IgA tTG and EMA in patients with a definite diagnosis of CTD and inflammatory arthropathies (IA). MATERIAL AND METHODS: One hundred forty nine patients, aged 19 to 86 years (133 females) with CTD and IA were studied. tTG were determined by ELISA and EMA by indirect immunofluorescence. RESULTS: Eight participants had at least one positive antibody (5.4%, confidence intervals (CI) = 1.8-9), six had both (4.0% CI = 0.9-7.2) and two had only tTG positive. An intestinal biopsy was performed in four of these participants, finding a marked villous atrophy in three and partial atrophy in one. CONCLUSIONS: Five percent of this group of patients with CTD or IA had positive antibodies for CD.

Síndrome de Erasmus: a propósito de un caso / Erasmus syndrome: report of a case

En 1957, L. D. Erasmus comunicó la asociación entre sílice y esclerosis sistémica, destacando la importancia de la exposición a sílice como un factor de riesgo para el desarrollo de esclerodermia ocupacional. Si bien existen reportes de la interacción entre sílice y el sistema inmune, continúa siendo actualmente una asociación infrecuente. El objetivo es presentar un paciente varón de 41 años con esclerosis sistémica e historia de exposición a gran cantidad de polvo de sílice, que desarrolló síndrome de Erasmus. Realizamos además una revisión de la literatura.

In 1957, L. D. Erasmus reported the association between silica andsystemic sclerosis, highlighting the importance of the silica exposureas a risk factor for developing scleroderma occupational. While thereare reports of the interaction between silica and the immune systemcurrently remains an infrequent association.The objective is to report a 41 year old male patient with systemicsclerosis and history of high quantity of silica dust exposure whodeveloped an Erasmus syndrome. A review of the literature has alsobeen performed.

The -2518 A/G polymorphism in the monocyte chemoattractant protein 1 gene is associated with the risk of developing systemic lupus erythematosus in Argentinean patients: a multicenter study.

Systemic lupus erythematosus (SLE) is a systemic, autoimmune disorder. Monocyte chemoattractant protein 1 (MCP-1), a chemokine involved in the recruitment and migration of monocytes/macrophages, has been shown to be increased in the plasma of SLE patients. The aim of our study was to evaluate the possible association of the polymorphism -2518 of the MCP-1 gene with the risk of developing SLE, manifesting lupus nephritis (LN) and with other clinical features of SLE in an Argentinean population. A group of 171 SLE patients and 120 control subjects were examined. Genotypic and allelic frequencies of the MCP-1 -2518 A/G polymorphism showed significant differences between the SLE and the control groups (p=0.001 and p=0.01, respectively). However, the polymorphism showed no association with LN or with the other clinical variables studied. Our results suggest that the presence of the MCP-1 -2518 A/G polymorphism might be a risk factor for developing SLE in genetically predisposed individuals, but it does not seem to have a role in the evolution of the disease in the Argentinean population.

Frecuencia de manifestaciones sistémicas en pacientes con síndrome de Sjögren primario en Argentina / Frequency of systemic manifestations in patients with primary Sjögren's syndrome in Argentina

Del 20–71% de los pacientes con síndrome de Sjögren (SS) desarrolla manifestaciones sistémicas. Objetivos: El objetivo fue evaluar las características clínicoserológicas y frecuencia la de manifestaciones sistémicas en pacientes con SS primario. Material y métodos: Estudio retrospectivo con revisión de historias clínicas de pacientes con Sd de Sjögren primario visitados en el Hospital Británico de Buenos Aires en el período desde Enero de 2000 a Agosto de 2008. Resultados: Se incluyeron 41 paciente que cumplían criterios de clasificación Europeoamericanos 2002 para SS, todos de sexo femenino. La edad media fue 57,85±12,42 años (rango 26–79). El tiempo de evolución fue de 9,28 años (rango 0,08–24). Treinta y tres (80,49%) presentaron manifestaciones sistémicas. Las más frecuentes fueron artritis, vasculitis cutánea y polineuropatía. Este grupo presentó más frecuentemente títulos de AAN ≥1/640 e hipocomplementemia; aunque no estadísticamente significativas. La frecuencia de manifestaciones sistémicas halladas fue mayor a la reportada en otras series. Conclusiones: Un abordaje multidisciplinario enfocado en las manifestaciones sistémicas debería ser el nuevo estándar para el manejo del SS (AU)

Twenty to 71% of patients with Sjögren's syndrome (SS) will develop systemic manifestations. Objective: to characterize the clinical-serological presentation and the frequency of systemic manifestations in patients with primary SS. Methods: Retrospective study including patients with SS visited in “Hospital Británico de Buenos Aires” during the period from January 2000 to August 2008.Results: Forty-one patients fulfilled the 2002 American-European classification criteria for SS. All patients were women. Mean age at enrollment was 57,85±12,42 years (range 26–79). Mean duration of the disease was 9,28 years (range 0,08–24). Thirty-three (80,49%) developed systemic manifestations. The most frequent were arthritis, cutaneous vasculitis and polyneuropathy. This group featured more frequently ANA titles ≥1/640 and hypocomplementemia; although no statistical significance was found. The frequency of systemic manifestations found was greater than reported in the literature.Conclusions: A multidisciplinary approach focusing also on systemic manifestations should be the new standard for management of SS (AU)

[Frequency of systemic manifestations in patients with primary Sjögren's syndrome in Argentina]. / Frecuencia de manifestaciones sistémicas en pacientes con síndrome de Sjögren primario en Argentina.

UNLABELLED: Twenty to 71% of patients with Sjögren's syndrome (SS) will develop systemic manifestations. OBJECTIVE: To characterize the clinical-serological presentation and the frequency of systemic manifestations in patients with primary SS. METHODS: Retrospective study including patients with SS visited in "Hospital Británico de Buenos Aires" during the period from January 2000 to August 2008. RESULTS: Forty-one patients fulfilled the 2002 American-European classification criteria for SS. All patients were women. Mean age at enrollment was 57.85 ± 12.42 years (range 26-79). Mean duration of the disease was 9.28 years (range 0.08-24). Thirty-three (80.49%) developed systemic manifestations. The most frequent were arthritis, cutaneous vasculitis and polyneuropathy. This group featured more frequently ANA titles ≥ 1/640 and hypocomplementemia; although no statistical significance was found. The frequency of systemic manifestations found was greater than reported in the literature. CONCLUSIONS: A multidisciplinary approach focusing also on systemic manifestations should be the new standard for management of SS.

Sialoquímica en el síndrome de SjÖgren : nuevo índice para el diagnóstico / Sialochemistry in the SjÖgren's syndrome : new index for the diagnosis

El síndrome de SjÖgren (SS) está caracterizado por una inflamación crónica de las glándulas lagrimales y salivales con infiltración linfocitaria, provocando sequedad ocular y bucal. Además de la disminución del flujo salival se han observado alteraciones en diversos parámetros bioquímicos de la saliva. El objetivo del presente trabajo consistió en evaluar la sialometría basal (saliva total) y estimulada (saliva parotídea), y cuantificar diversos parámetros sialoquímicos en 62 pacientes con SS y 28 pacientes controles, con el fin de clarificar su aptitud diagnóstica. La sialometría basal tomada en forma temporal (7 meses) en algunos pacientes, demostró ser efectiva sólo para la evaluación de la xerostomía y evidenció la existencia de picos esporádicos de secreción. La saliva parotídea estimulada presentó una disminución del flujo (0.89ñ0.09 vs. 0.48ñ0.06 mL/min.), amilasa (602.40ñ76.70 vs. 436.10ñ53.80 AU), y proteínas totales (152.04ñ9.80 vs. 116.50ñ8.30 mg/dL), y un aumento de las concentraciones de Na+(22.75ñ3.52 vs. 43.46ñ3.22 mEq/L), e IgG (0.40ñ0.13 vs. 3.91ñ1.01 mg/dL) y/o IgM (0.40ñ0.12 vs. 1.54ñ0.31 mg/dL). No en todos los pacientes se registró un aumento simultáneo de IgG e IgM, pero siempre apareció elevada una de ellas. Como el índice salival que resulta del producto de las concentraciones de IgG por IgM es siempre mayor a 0.25 en los pacientes con SS, y menor o igual a este valor en el grupo control, creemos que, sumado al carácter no invasivo del método de extracción, sería una herramienta complementaria de gran utilidad en el diagnóstico de este síndrome.

Sialoquímica en el síndrome de SjIgren : nuevo índice para el diagnóstico / Sialochemistry in the SjIgrens syndrome : new index for the diagnosis

El síndrome de SjIgren (SS) está caracterizado por una inflamación crónica de las glándulas lagrimales y salivales con infiltración linfocitaria, provocando sequedad ocular y bucal. Además de la disminución del flujo salival se han observado alteraciones en diversos parámetros bioquímicos de la saliva. El objetivo del presente trabajo consistió en evaluar la sialometría basal (saliva total) y estimulada (saliva parotídea), y cuantificar diversos parámetros sialoquímicos en 62 pacientes con SS y 28 pacientes controles, con el fin de clarificar su aptitud diagnóstica. La sialometría basal tomada en forma temporal (7 meses) en algunos pacientes, demostró ser efectiva sólo para la evaluación de la xerostomía y evidenció la existencia de picos esporádicos de secreción. La saliva parotídea estimulada presentó una disminución del flujo (0.89ñ0.09 vs. 0.48ñ0.06 mL/min.), amilasa (602.40ñ76.70 vs. 436.10ñ53.80 AU), y proteínas totales (152.04ñ9.80 vs. 116.50ñ8.30 mg/dL), y un aumento de las concentraciones de Na+(22.75ñ3.52 vs. 43.46ñ3.22 mEq/L), e IgG (0.40ñ0.13 vs. 3.91ñ1.01 mg/dL) y/o IgM (0.40ñ0.12 vs. 1.54ñ0.31 mg/dL). No en todos los pacientes se registró un aumento simultáneo de IgG e IgM, pero siempre apareció elevada una de ellas. Como el índice salival que resulta del producto de las concentraciones de IgG por IgM es siempre mayor a 0.25 en los pacientes con SS, y menor o igual a este valor en el grupo control, creemos que, sumado al carácter no invasivo del método de extracción, sería una herramienta complementaria de gran utilidad en el diagnóstico de este síndrome. (AU)

Síndrome de Lesch-Nyhan incompleto : comunicación del primer caso argentino / Incomplete Lesch-Nyhan syndrome : communication of first case argentinian

El síndrome de Lesch-Nyhan es una infrecuente gota hereditaria vinculada al déficit virtualmente completo de la enzima hipoxantina guanina fosforribosil transferasa (HGFT) existiendo ocasionalmente déficit parciales, que se diferencian de las formas completas por presentar manifestaciones neuropsiquiátricas menores. Es nuestro objetivo presentar al que en nuestro conocimiento es el primer paciente argentino portador del síndrome de Lesh-Nyhan incompleto o de Kelley-Seegmiller. Paciente varón de 38 años con historia familiar de gota e insuficiencia renal que desarrolla una severa artritis gotosa tofácea de rápida evolución y déficit intelectual. Los análisis de laboratorio de rutina mostraron una marcada hiperuricemia y excesiva excreción de ácido úrico con una función renal conservada. La determinación de la actividad enzimática de la HGFT se halló francamente disminuida.

Síndrome de Lesch-Nyhan incompleto : comunicación del primer caso argentino / Incomplete Lesch-Nyhan syndrome : communication of first case argentinian

El síndrome de Lesch-Nyhan es una infrecuente gota hereditaria vinculada al déficit virtualmente completo de la enzima hipoxantina guanina fosforribosil transferasa (HGFT) existiendo ocasionalmente déficit parciales, que se diferencian de las formas completas por presentar manifestaciones neuropsiquiátricas menores. Es nuestro objetivo presentar al que en nuestro conocimiento es el primer paciente argentino portador del síndrome de Lesh-Nyhan incompleto o de Kelley-Seegmiller. Paciente varón de 38 años con historia familiar de gota e insuficiencia renal que desarrolla una severa artritis gotosa tofácea de rápida evolución y déficit intelectual. Los análisis de laboratorio de rutina mostraron una marcada hiperuricemia y excesiva excreción de ácido úrico con una función renal conservada. La determinación de la actividad enzimática de la HGFT se halló francamente disminuida. (AU)