ABSTRACT
A 24-year-old male was admitted due to recurrent redness, swelling, fever and pain in the ankle, frequently accompanied by hungry feeling. Dual energy CT scans showed multiple small gouty stones in the posterior edge of the bilateral calcaneus and in the space between the bilateral metatarsophalangeal joints. The laboratory examination results indicated hyperlipidemia, high lactate lipids, and low fasting blood glucose. Histopathology of liver biopsy showed significant glycogen accumulation. The results of gene sequencing revealed the compound heterozygous mutations of the G6PC gene c.248G>A (p.Arg83His) and c.238T>A (p.Phe80Ile) in the proband. The c.248G>A mutation was from mother and the c.238T>A mutation was from father. The diagnosis of glycogen storage disease type Ⅰa was confirmed. After giving a high starch diet and limiting monosaccharide intake, as well as receiving uric acid and blood lipids lowering therapy, the condition of the patient was gradually stabilized. After a one-year follow-up, there were no acute episodes of gout and a significant improvement in hungry feeling in the patient.
Subject(s)
Male , Humans , Young Adult , Adult , Glycogen Storage Disease Type I/genetics , Gout/genetics , Mutation , LipidsABSTRACT
Familial juvenile hyperuricemic nephropathy (FJHN; OMIM 162000) is an autosomal dominant disorder characterized by hyperuricemia and gouty arthritis due to reduced kidney excretion of uric acid and progressive renal failure. Gradual progressive interstitial renal disease, with basement membrane thickening and glomerulosclerosis resulting from fibrosis, starts in early life. In most cases of FJHN, uromodulin gene (UMOD) is responsible for the disease; however, there has been only one report of a genetically confirmed FJHN family in Korea. Here we report another Korean family with FJHN, in which three male members. a father and 2 sons.developed gout and progressive renal insufficiency. The clinical, laboratory, and radiological findings were consistent with FJHN, and renal biopsy showed chronic parenchymal damage, which can be found in FJHN but is not specific to this disease. In order to confirm the diagnosis, sequence analysis of the UMOD was performed, and a novel heterozygous missense variant (c.187T>C; p.Cys63Arg) in exon 3 was identified. We assume that this variant is likely to be the causative mutation in this family, as the variant segregated with the disease. In addition, approximately two-thirds of the known mutations lead to a cysteine amino acid change in uromodulin, and all such variants have been shown to cause UMOD-associated kidney disease. In summary, we report a Korean FJHN family with three affected members by genetic analysis of the UMOD, and provide the first report of a novel heterozygous missense mutation.
Subject(s)
Adolescent , Adult , Humans , Male , Base Sequence , DNA Mutational Analysis , Exons , Gout/genetics , Heterozygote , Hyperuricemia/genetics , Kidney Diseases/genetics , Mutation, Missense , Pedigree , Polymorphism, Single Nucleotide , Republic of Korea , Uromodulin/chemistryABSTRACT
En esta segunda parte analizamos los inicios y la evolución de la Gota y de la Espondilitis Anquilosante. Relatamos nuevamente la importancia del arte en el desarrollo del conocimiento de estas enfermedades reumáticas
Subject(s)
Spondylitis/genetics , Spondylitis/history , Gout/genetics , Gout/historyABSTRACT
La gota ha sido caracterizada como una enfermedad con bases hereditarias. Se estudió la posible predisposición genética en un grupo de hombres, hijos de padres gotosos y en un grupo de hijos de padres sin patología asociada. Se cuantificaron los niveles de ácido úrico y el efecto que produce en estos niveles el consumo de alcohol, cigarrillos y carne. Se estudiaron 60 individuos entre 18 y 40 años; 20 hijos de gotosos, grupo de riesgo (R) y 40 como grupo control (C). Ambos grupos son comparables en edad y hábitos de consumo investigados. Los niveles de ácido fueron para C:5 mg/dl ñ 1.04 y para R:5.9 mg/dl ñ 1.35 siendo significativo para p<0.05. Se observó que el alcohol, incrementa los valores de ácido úrico en ambos grupos. El consumo de carnes también eleva los niveles en los grupos estudiados, siendo significativo, solo en el grupo de riesgo con un p<0.05. El hábito de fumar reveló una disminución de los niveles de uricemia exclusivamente en el grupo control con una significancia de p<0.05. Se concluye que los niveles de uricemia en los grupos estudiados es influenciada por factores hereditarios y que, los hábitos de fumar, consumo de alcohol y de carnes afecta de manera diferente a ambos grupos
Subject(s)
Humans , Male , Adolescent , Adult , Uric Acid/blood , Gout/diagnosis , Age Factors , Case-Control Studies , Alcohol Drinking/epidemiology , Gout/genetics , Feeding Behavior , Meat/adverse effects , Risk Factors , Smoking/epidemiologyABSTRACT
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.