Antonio Hernández López

Rhabdomyolysis due to primary hyperaldosteronism

Rhabdomyolysis may be secondary to trauma, excessive muscle activity, hereditary muscle enzyme defects and other medical causes. Primary hyperaldosteronism is characterised by hypertension, hypokalemia, suppressed plasma renin activity, and increased aldosterone excretion. Rhabdomyolysis is not common in primary hyperaldosteronism. We report here a 42-year-old woman presenting with rhabdomyolysis as heralding symptom of primary hyperaldosteronism. We also carried out a search of the literature to identify all cases of rhabdomyolysis as the first-recognized expression of a primary hyperaldosteronism. Sixteen cases met the criteria for inclusion. When rhabdomyolysis occurs in a patient with hypokalemia and metabolic alkalosis, primary hyperaldosteronism has to be suspected: if confirmed, an aldosterone-producing adenoma is the most probable cause.

Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1α gene

OBJECTIVE The aim of our study was to describe and evaluate the clinical and metabolic characteristics of patients with MODY-3, MODY-2 or type 2 diabetes who presented I27L polymorphism in the HNF1alpha gene. METHODS The study included 31 previously diagnosed subjects under follow-up for MODY-3 (10 subjects from 5 families), MODY-2 (15 subjects from 9 families), or type 2 diabetes (6 subjects) with I27L polymorphism in the HNF1alpha gene. The demographic, clinical, metabolic, and genetic characteristics of all patients were analyzed. RESULTS No differences were observed in distribution according to sex, age of onset, or form of diagnosis. All patients with MODY-2 or MODY-3 had a family history of diabetes. In contrast, 33.3% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1alpha gene had no family history of diabetes (p < 0.05). No differences were observed in body mass index, prevalence of hypertension, or microvascular or macrovascular complications. Drug therapy was required by 100% of MODY-3 patients, but not required by 100% of MODY-2 patients or 16.7% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1alpha gene (p < 0.05). CONCLUSIONS Occasional difficulties may be encountered when classifying patients with MODY-2, MODY-3 or type 2 diabetes of atypical characteristics, in this case patients who present I27L polymorphism in the HNF1alpha gene.Objective: The aim of our study was to describe and evaluate the clinical and metabolic characteristics of patients with MODY-3, MODY-2 or type 2 diabetes who presented I27L polymorphism in the HNF1α gene. Methods: The study included 31 previously diagnosed subjects under follow-up for MODY- 3 (10 subjects from 5 families), MODY-2 (15 subjects from 9 families), or type 2 diabetes (6 subjects) with I27L polymorphism in the HNF1α gene. The demographic, clinical, metabolic, and genetic characteristics of all patients were analyzed. Results: No differences were observed in distribution according to sex, age of onset, or form of diagnosis. All patients with MODY-2 or MODY-3 had a family history of diabetes. In contrast, 33.3% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1α gene had no family history of diabetes (p < 0.05). No differences were observed in body mass index, prevalence of hypertension, or microvascular or macrovascular complications. Drug therapy was required by 100% of MODY-3 patients, but not required by 100% of MODY-2 patients or 16.7% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1α gene (p < 0.05). Conclusions: Occasional difficulties may be encountered when classifying patients with MODY-2, MODY-3 or type 2 diabetes of atypical characteristics, in this case patients who

Metodología diagnóstica en la identificación del Cushing ectópico

La distincion entre las distintas formas de sindrome de Cushing dependiente de corticotropina (ACTH), es decir, los adenomas hipofisarios y los tumores ectopicos, puede resultar dificil en determinados casos. Las pruebas diagnosticas que nos orientan en esa situacion son la supresion con dosis altas de dexametasona, la respuesta a metopirona, al estimulo con corticoliberina (CRH) o desmopresina, la determinacion de otras hormonas o marcadores tumorales, las pruebas de imagen y el cateterismo de senos petrosos inferiores, pero todas ellas ofrecen sensibilidades y especificidades suboptimas, por lo que solemos recurrir a la combinacion de varias pruebas. Una vez confirmado el origen ectopico de la secrecion de ACTH, debemos localizar el tumor que la origina. Para ello hay que conocer los tipos tumorales implicados con mayor frecuencia en el sindrome de secrecion ectopica de ACTH/CRH (carcinoides, carcinomas pulmonares de celulas pequenas, tumores neuroendocrinos, carcinomas medulares de tiroides, feocromocitomas y otros) y utilizar las distintas tecnicas de imagen disponibles. La tomografia computarizada (TC) y la resonancia magnetica (RM) son las mas utilizadas y las de mayor rentabilidad diagnostica. Las pruebas de imagen “funcionales”, la gammagrafia con octreotida y la tomografia poremision de positrones, pueden ofrecer resultados positivos cuando la TC y la RM no encuentran la lesion que causa el sindrome. Aun despues de emplear todas estas tecnicas, y otras menos habituales por resultar menos rentables, queda un 15-20% de pacientes con tumores no localizados. Su seguimiento a largo plazo hace que algunos tumores pasen a ser clinicamente evidentes y que el porcentaje de tumores ocultos vaya reduciendose a medida que pasan los anos.

Importance of clinical variables in the diagnosis of MODY2 and MODY3

AIMS MODY (maturity onset diabetes of the young) is a group of well-defined diseases clinically characterised by onset before age 25 years that does not require insulin treatment (at least initially) to prevent the formation of ketone bodies and autosomal dominant inheritance. Despite the importance of accurate classification, it is not always simple to catalogue the diagnosis of a young patient with diabetes, and genetic studies are often improperly used. METHODS We describe the clinical features of patients negative for MODY2 and MODY3 and compared them to patients positive for these subtypes. RESULTS All patients with MODY3 had been diagnosed before age 25 years and required drug therapy for blood glucose control. MODY2 patients were diagnosed at the first laboratory workup either incidentally or as part of gestational diabetes screening. The clinical description of the 19 patients negative for MODY2 and MODY3 showed that only two patients presented a clinical picture consistent with MODY3 and one patient with MODY2. CONCLUSIONS Clinical features can be used for early exclusion of a MODY2 or MODY3 diagnosis and may reduce the need for genetic testing.