Glucogenosis Hepática. Características clínicas, laboratoriales e imagenológicas en pacientes pediátricos menores de 15 años / Hepatic glycogenosis. Clinical, laboratory and imaging characteristics in pediatric patients under 15 years old

Antecedentes: La glucogenosis (GSD) hepática es una enfermedad hereditaria autosómica recesiva caracterizada por la alteración del depósito de glucógeno en los tejidos. La enfermedad se presenta con hepatomegalia, debilidad muscular y retraso del crecimiento. Esta patología usualmente se diagnostica clínicamente a partir de los 6 meses de edad cuando la ingesta de alimentos del lactante es más espaciada y puede debutar con sintomatología de hipoglicemia. Debido a la inespecificidad de la presentación clínica de la enfermedad es muy importante la sospecha diagnóstica desde los centros de primer nivel de atención y su derivación oportuna a centros de especialidad. Objetivo: Evaluar y describir el perfil nutricional y clínico en pacientes menores de 15 años con Glucogenosis Hepática. Método: Se describe una serie de casos de 14 pacientes menores de 15 años con diagnóstico clínico de GSD hepática, atendidos en la consulta de Gastroenterología y Nutrición Pediátrica del Hospital Carlos Andrade Marín entre 2016 y 2018. El diagnóstico se lo realizó de acuerdo a la clínica que presentó cada paciente como la presencia de distensión abdominal, hepatomegalia, adinamia, retraso en el crecimiento y datos laboratoriales como niveles de glicemia en sangre periférica, transaminasas, y realización de elastografía entre los principales. Se analizaron datos sociodemográficos, antropométricos, de laboratorio (transaminasas, glicemia periférica) y elastografía hepática. Para el análisis de datos se creó una base de datos en Microsoft Excel 2013 y se procesó con el programa Epi Info 7. Resultados: En este grupo de casos, los tipos específicos de GSD hepática fueron tipo IX, 57,14% (8), tipo III, 28,57% (4) y tipo Ia-b, 14,29% (2) pacientes. La prevalencia de características clínicas ante la sospecha de la GSD hepática fueron: hepatomegalia 100% (14), y retraso en el crecimiento el 64,3% (9). De acuerdo a los exámenes de sangre periférica los valores promedio de transaminasas hepáticas (AST/TGO U/L) (ALT/TGP U/L) y glucosa, fueron de 364±384, 302±255 y 61±15 mg/dL, respectivamente. La elastografía con la que se evaluó el nivel de fibrosis hepática al momento del diagnóstico arrojó los siguientes resultados: F0 (no fibrosis hepática) en el 28,57% (4), F1 con el 28,57% (4), F2-F3 con el 35,71% (5), y F4 7,14%. Conclusión: La Glucogenosis es una patología que debería ser sospechada a tiempo en centros del primer nivel de salud para luego referir oportunamente los casos a los centros de referencia. La hepatomegalia y el retardo en el crecimiento son signos cardinales de alerta para la sospecha de esta patología.

Adult Idiopathic Renal Fanconi Syndrome: A Case Report

Renal Fanconi syndrome (RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of RFS. Here, we report the case of a 52-year-old woman with RFS whose etiology could not be identified. She presented with features of phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis. Her family history was unremarkable, and previous medications were nonspecific. Her bone mineral density was compatible with osteoporosis, serum intact parathyroid hormone level was mildly elevated, and 25(OH) vitamin D level was insufficient. Her blood urea nitrogen and serum creatinine levels were 8.4 and 1.19 mg/dL, respectively (estimated glomerular filtration rate, 53 mL/min/1.73 m²). Percutaneous renal biopsy was performed but revealed no specific renal pathology, including mitochondrial morphology. No mutation was detected in EHHADH gene. We propose the possibility of involvement of other genes or molecules in this case of adult RFS.

A Case of Isolated Glycosuria Mediated by an SLC5A2 Gene Mutation and Characterized by Postprandial Heavy Glycosuria Without Salt Wasting

Familial renal glycosuria (FRG) is an inherited disorder characterized by persistent glycosuria in the absence of hyperglycemia. It is caused by mutations in the sodium-glucose co-transporter, leading to increase in the renal excretion of glucose and sodium. However, there have been no studies on the role of fasting and postprandial changes in the urinary sodium excretion in patients with FRG. We report a case of renal glycosuria, which was confirmed by a SLC5A2 mutation via gene sequencing, and compared the postprandial urinary glucose and sodium excretion. A 26-year-old man sometimes experienced glycosuria on routine screening; however, other laboratory findings were normal. His fasting and postprandial urinary glucose excretion levels were 295mg/dL and 2,170mg/dL, respectively. The fasting and postprandial urinary sodium excretion levels were 200mEq/L and 89mEq/L, respectively. In patients with FRG, excessive diuresis might be prevented by a compensatory mechanism that reduces postprandial sodium excretion.

A Case of Tubulointerstitial Nephritis and Uveitis with Fanconi Syndrome / 대한내과학회지

Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease that comprises 4.7% of acute interstitial nephritis. With reno-ocular manifestations, TINU syndrome is accompanied by symptoms such as fever, fatigue, malaise, anorexia, vomiting, and arthralgia. TINU syndrome is reported mainly in children or adolescent girls, and it is rare in adults. Although TINU syndrome can present with multiple renal tubular defects, Fanconi syndrome characterized by generalized impairment of proximal tubular function, leading to renal glucosuria, hyperuricosuria, hyperphosphaturia, proximal renal tubular acidosis, and kaliuresis leading to hypokalemia, has rarely been described. We report a case of TINU syndrome with Fanconi syndrome in a 46-year-old HLA B27-positive Korean woman.

Glicosúria renal: a propósito de dois casos clínicos / Renal glycosuria: report of two cases

A glicosúria como achado acidental implica um estudo etiológico. Apresentam-se os casos de duas adolescentes do sexo feminino, assintomáticas, referenciadas por glicosúria detectada em análise de rotina. Negavam infecções, traumatismos e ingestão de fármacos ou tóxicos. O estudo efetuado confirmou glicosúria na ausência de outras alterações. O estudo genético revelou a presença de mutações do gene SCL5A2, confirmando o diagnóstico de glicosúria renal. A glicosúria renal familiar caracteriza-se por glicosúria isolada persistente na ausência de hiperglicemia e de disfunção tubular renal generalizada. É, geralmente, assintomática e o prognóstico é favorável. Alerta-se para esta rara entidade, pois pode ser motivo de referenciação para consulta de pediatria, salientando-se a importância do diagnóstico diferencial com afecções mais graves que necessitam de tratamento adequado.

Glycosuria as an accidental finding implies a diagnostic workout. We present the cases of two asymptomatic female teenagers referred to a hospital outpatient clinic due to isolated glycosuria detected in a routine analysis. The diagnostic workout revealed isolated glycosuria in the absence of other abnormalities. The genetic study confirmed the diagnosis of renal glycosuria, by revealing SCL5A2 gene mutations. Renal glycosuria is characterized by persistent glycosuria in the absence of hyperglycaemia or generalized renal tubular dysfunction. It's usually asymptomatic and has good prognosis. The authors call the attention to this rare entity, since it can be the reason for reference to a hospital outpatient clinic, underlining the importance of a differential diagnosis with more serious diseases that require proper treatment.

Renal glycosuria induced by acute thioacetamide administration to rats

La administración de tioacetamida (TAA) en ratas (75 mg/kg de peso vía subcutánea) produjo un incremento estadísticamente significativo de la eliminación urinaria de glucosa, Na+ y fosfato. Adicionalmente, ocurrió una disminución de la presión arterial y de la velocidad de filtración glomerular, sin cambios en la excreción urinaria de K+, H+, aminoácidos ni en la glucemia. Se observó una disminución del 60 por ciento y 75 por ciento del Tmax y Tmin para la glucosa, respectivamente. La TAA alteró la captación de [14C]-glucosa por vesículas de membrana de borde apical renal (BBMV), disminuyendo en un 16 por ciento el pico de captación a los 30 s, en un 63 por ciento la Vmax y en aproximadamente un 82 por ciento el Km. También disminuyó en un 52 por ciento el Kd y cerca de un 59 por ciento el número de sitios de unión para [3H]-floricina en BBMV. Estos resultados sugieren fuertemente que la droga reduce la cantidad del co-transportador Na+/glucosa (SGLT1) presente en la membrana apical del túbulo contorneado proximal. La disminución de la temperatura de transición de la maltasa y de la fosfatasa alcalina de las BBMV así como el incremento de la cantidad de ácidos grasos insaturados presentes en los fosfolipidos de las BBMV sugieren un incrementoen la fluidez de dichas membranas. Estos resultados pudieran explicar el incremento en la afinidad del SGLT1 por la glucosa producida por la TAA.

Asymptomatic bacteriuria in type 2 diabetic women in Iran

This study was performed to evaluate the prevalence and risk factors of asymptomatic bacteriuria [ASB] in women with type 2 diabetes mellitus in Iranian population. Between March 2003 and December 2003, 202 nonpregnant women with diabetes type 2 who were between 31 to 78 years old and had no abnormalities of the urinary tract system were included. We defined ASB as the presence of at least 105 colony-forming units/ml of 1 or 2 bacterial species, in two separated cultures of clean-voided midstream urine. All the participants were free from any symptoms of urinary tract infection [UTI]. Risk factors for developing bacteriuria was assessed and compared in participants with and without bacteriuria. In this study, the prevalence of ASB was 10.9% among diabetic women. E.coli was the most prevalent microorganism responsible for positive urine culture. Most of the isolated microorganisms were resistant to Co-trimoxazole, Nalidixic acid and Ciprofloxacin. Pyuria [P<0.001] and glucosuria [P<0.05] had meaningful relation with bacteriuria but no association was evident between age [P<0.45], duration of diabetes [P<0.09], macroalbuminuria [P<0.10] and HbA1c level [P<0.75], and the presence of ASB. The prevalence of ASB is more prevalent in women with type 2 diabetes, which pyuria and glucosuria can be considered as risk factors in this regard. Routine urine culture can be recommended for diabetic women even when there is not any urinary symptom

Survey study of microalbuminuria in diabetic patients attending out-patient clinic of diabetes in Assiut University Hospital

Micro albuminuria is the earliest sign of diabetic nephropathy [DNP] and it is an indicator for the presence of the characteristic glomerular lesion. This study was conducted on the adult diabetic patients of both types I and II of diabetes mellitus [DM] attending the out -patient clinic of Assiut University Hospital throughout the year 2002. Patients with hypertension, congestive heart failure or those with urinary tract infection albuminuria were excluded. Five hundred patients were subjected to full history taking and clinical examination as well as the following investigations; [I] complete urine analysis [2] screening for micro albuminuria [3] fasting serum glucose [FSG]] and glycosylated hemoglobin [HbAlc] [4] serum urea and creatinine and creatinine clearance. Out of 500 patients 213 [42.6%] were positive for micro albuminuria which was more prevalent among type I DM, male sex, extreems of age, urbans, over-weight and obese patients and those with low physical activities as well as patients with non renal complications. Significant direct proportions were found between level of micro albuminuria, on one hand, and level of FSG and HbAlc and serum urea and creatinine on the other hand, while inverse proportion was found with creatinine clearance. We have concluded that, micro albuminuria is a simple detectable marker for screening incipient DNP. Micralbuminuria was prevalent among considerable percentage [42.6%] of our diabetic patients. It was found to be more prevalent among different studied categories of patients which could be considered as possible risk factors for developing DNP in our locality. Apart from hypertension, these factors are [1] type I DM [2] male sex [3] extreems of age [4] urbans [5] low physical activities [6] obesity [7] long duration of DM [8] bad control of hyperglycaemia [9] presence of non renal complications [10] renal insufficiency

A case of adult Fanconi syndrome related with cadmium intoxi Seoul Korea / 대한내과학회지

Adult Fanconi syndrome is a very rare disease characterized by renal glycosuria, generalized aminoaciduria, hypophosphatemia, hypouricemia and proximal renal tubular acidosis. It is divided into inherited and acquired forms. Proximal tubular transport defect in acquired Fanconi syndrome has been known to be resulted from multiple myeloma, dysproteinemias, heavy metal poisoning and chemical intoxications. A 50 year-old woman was admitted because of nausea for 2 weeks and body weight loss for 4 months. Leukocyte count, hemoglobin level and platelet count were 7,870/mm3, 11.7 g/dL 404,000/mm3 each. The urinalysis showed pH of 7.0, 3 positive for glucose and 3 positive for protein. The serum calcium, phosphate, uric acid and potassium were low to 8.9 mg/dL, 1.0 mg/dL, and 1.7 mEq/L. Serum creatinine level was 1.3mg/dL. The arterial blood gas analysis showed that the pH was 7.292 and bicarbonate was 14.7 mmol/L. Determination of amino acids in 24 hour urine specimen revealed the generalized aminoaciduria. Renal biopsy showed degeneration and necrosis of proximal tubules with normal glomeruli. Some tubular epithelial cells had enlarged nuclei and prominant nucleoli with vacuolated large mitochondrias. Cadmium concentrations of blood and urine were definitely higher than normal. The concentration of beta 2-microglobulin in urine was also high. Bicarbonate loading tests showed increased fractional excretions of bicarbonate in urine (6.129% at blood pH 7.248 and plasma HCO3 18.8 mEq/L, 13.7% at blood pH 7.315 and plasma HCO3 21.8 mEq/L). 24 hour urine protein electrophoresis showed no monoclonal gammopathy. This case of adult Fanconi syndrome was regarded to be related with cadmium intoxication. But no case of adult Fanconi syndrome related with cadmium toxicity has been reported yet in Korea. So authors report this case with brief review of literatures.

A Case of Adult Fanconi's Syndrome with Glomerular Podocyte Foot Process Effacement and osteomalacia Induced by k Light Chain Disease / 대한내분비학회지

The Fanconi's syndrome is characterized by generalized disturbance of proximal tubular function. It leads to excessive losses of amino acids, glucose, phosphate, bicarbonate, and other substrates handled by the proximal tubules. The metabolic consequences are acidosis, hypophosphatemia, hypocalcemia, osteomalacia, osteoporosis, and growth retardation. Adult Fanconi's syndrome is mostly secondary form caused by multiple myeloma, primary amyloidosis, light chain nephropathy, and heavy metal poisoning. We experienced 50-year-old woman with kappa light chain disease whose chief complaints were weakness of both lower extremities and multiple bone pain. This patient had renal glycosuria, hypercalciuria, normal anion gap type metabolic acidosis, osteomalacia and normal distal tubule acidification. Her bone marrow biopsy showed inappropriate proliferation of plasma cell. The patient underwent percutaneous renal biopsy in which was exceptionally observed focal effacement of podocyte foot process. So we report a case of osteomalacia caused by adult Fanconi's syndrome and foot process effacement by kappa -light chain disease.

Efeito da inibiçäo crônica do óxido nítrico no rim de ratos diabéticos / Effect of nitric oxide chronic inhibition on kidney of diabetic rats

O presente trabalho teve como finalidade analisar o efeito de um inibidor do óxido nítrico no rim de ratos normais e diabéticos. Observamos que L-NG-nitro arginina metil éster (L-NAME), além de causar hipertensäo arterial, näo teve nenhum efeito na morfologia renal e, também näo atenuou a diabetes pela inibiçäo da produçäo do NO. O conhecimento sobre a produçäo de NO por ilhotas de Langerhans ainda precisa ser melhor estudado, porém este é um modelo eficaz para estudo de hipertensäo

Mecanismos de glucosuria renal por acción de la tioacetamida en ratas / Mechanisms of glycosuria renal by action of the thioacetamide in rats

Se determinó el efecto que produce la tioacetamida (TAA) sobre el estado físico de las mambranas, la composición lipídica y el transportador Na+- glucosa de la membrana de borde ciliado renal (MBCR) con la finalidad de establecer el mecanismo por el cual esta droga produce glucosuria sin hiperglicemia en ratas cuando se administra por v¡a subcutánea. Se encontró disminución de la anisotrop¡a del DPH (aumento de la fluidez) en MBCR tratadas, disminución en las concentraciones de colesterol, fosfolípidos y en la relación lípido/proteína (R L/P). Se detectó en MBCR controles, mayor concentración de esfingomielina y fosfatidiletanolamina y en MBCR tratadas, mayor concentración de fosfatidilcolina. En cuanto a ácidos grasos se encontró en mayor proporción el C 16:0 y C 18:0 en MBCR controles y en tratadas el C 20:3. Indicando con estos resultados que la TAA produce aumento de la fluidez de las MBCR, debido a los cambios en su composición lipídica, y este cambio en la fluidez ha sido implicado en la disminución de la actividad de la proteína transportadora de Na+-glucosa. No se observó efecto en la incubación "in vivo" de las MBCR con cantidades crecientes de TAA sobre la captación de [14C]-glucosa. En el ensayo de unión de [3H] florizina a las MBCR, se hallaron los siguientes valores: para KD 0,78uM y 0,86 uM, y los números de sitios para [3H] florizina de 69 y 33 pmoles/mg de proteína, en controles y tratados respectivamente. En PAGE-SDS de los polipéptidos de MBCR tratados se observó una disminución de varios polipéptidos tales como 22,73 y 212 KDa. Se discuten las posibles implicaciones de estos resultados

Glicosuria renal - diagnostico laboratorial / Renal glycosuria - laboratorial diagnostic

O presente trabalho mostra o grave risco que poderemos correr, se nos basearmos apenas na glicosuria para diagnosticarmos uma hiperglicemia