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A Diabetes Insipidus (DI) é uma doença metabólica, pouco frequente na clínica de animais de companhia, e resulta na alteração do balanço hídrico do organismo. A DI ocorre devido a uma alteração na síntese ou secreção da hormona antidiurética (ADH), neste caso designada de diabetes insipidus central, ou devido a uma insensibilidade renal à ação da mesma hormona, designada de diabetes insipidus nefrogénica. Estas alterações resultam na falha da reabsorção tubular de água e na produção de grandes volumes de urina diluída, ou poliúria. De modo a evitar a desidratação, o animal desenvolve polidipsia compensatória. Os sinais clínicos mais frequentes de DI são poliúria/polidipsia e densidade urinária baixa. A ADH, sintetizada no hipotálamo e posteriormente armazenada na neurohipófise, é libertada com base na osmolalidade plasmática. Quando a osmolalidade plasmática aumenta, a ADH é libertada para a corrente sanguínea e no rim, principalmente nas células dos ductos coletores, liga-se ao seu recetor e promove a reabsorção de água do filtrado tubular através da inserção de aquaporinas. O diagnóstico da DI é desafiante e baseia-se na exclusão de doenças mais frequentes que apresentem poliúria/polidipsia. Para isso, é necessário realizar-se anamnese, exame físico, hemograma completo, painel bioquímico, análise de urina e exames de imagiologia. O teste de privação de água modificado e a resposta à administração de desmopressina constituem os procedimentos de confirmação diagnóstica de DI, sendo que a última permite diferenciar DI central e DI nefrogénica. O tratamento é efetuado com desmopressina, diuréticos tiazídicos, cloropropamida e dieta apropriada. Diabetes Insipidus (DI) is a metabolic disorder, uncommon in pet animals, which results from a disruption in the fluid balance of the organism. DI occurs due to a modification in the production or secretion of the antidiuretic hormone (ADH), designated as Central Diabetes Insipidus or due to a renal insensitivity to that hormone’s action, designated as Nephrogenic Diabetes Insipidus. These changes result in failure of the tubular reabsorption of water and the production of large volumes of diluted urine, or polyuria. In order to avoid dehydration, the animal develops compensatory polydipsia. The most common signs of DI are polyuria/polydipsia and low urine specific gravity. The ADH, synthetized in the hypothalamus and consequently stored in the neurohypophysis, is released based on plasma osmolality. When there is an increase in plasma osmolality, ADH is released into the bloodstream and, in the kidney, primarily in the collecting duct cells, connects to its receptor and promotes water reabsorption of the tubular filtrate through aquaporin insertion. Diagnosing DI is challenging and is accomplished by exclusion of more frequent conditions which include polyuria/polydipsia. As such, anamnesis, physical examination, complete blood count, biochemical profile, urinalysis and diagnostic imaging must be performed. The Modified water deprivation test and the response to the administration of desmopressin comprise the procedures for diagnostic confirmation of DI, where the latter allows to differentiate between central DI and nephrogenic DI. Treatment is carried out with desmopressin, thiazide diuretics, chlorpropamide and appropriate dieting. more...

Autoimmune hypophysitis is a condition characterized by lymphocytic infiltration of the pituitary resulting in deficiency of one or more hormones of both the adenohypophysis and the neurohypophysis. For diagnosis, a high index of suspicion is necessary, even more so considering the temporal relationship with pregnancy or childbirth. Clinical and imaging features are suggestive of the diagnosis. Although the definitive diagnosis is by biopsy, this is not usually performed because of the potential adverse effects of the procedure. We present a case describing the form of manifestation of the disease and the typical imaging features on magnetic resonance imaging. La hipofisitis autoinmune es un cuadro caracterizado por la infiltración linfocítica de la hipófisis que produce deficiencia de una o más hormonas, tanto de la adenohipófisis como de la neurohipófisis. Para el diagnóstico, es necesario un alto índice de sospecha, más aún considerando la relación temporal con el embarazo o el parto. Las características clínicas e imagenológicas sugieren el diagnóstico. A pesar que el diagnóstico definitivo es por biopsia, esta no se suele realizar por los potenciales efectos adversos del procedimiento. Presentamos un caso que describe la forma de manifestación de la enfermedad y las características imagenológicas típicas en la resonancia magnética nuclear. more...

A 69-year-old woman presented with sudden left hemiparesis. Computed tomography (CT) scan excluded acute brain injuries. Patient was admitted with acute ischemic stroke of right hemisphere. There was full recovery within 24 hours and etiologic studies were normal. There was a concomitant history of ingestion of 6 litres of water per day over the previous 2 years. Water deprivation test followed by the administration of desmopressin confirmed central diabetes insipidus diagnosis. Brain magnetic resonance imaging (MRI) was normal. Full body CT scan showed arterial wall thickening suggestive of large and medium vessels vasculitis, retroperitoneal fibrosis, perinephric infiltration, pleural and pericardial thickening and diffuse densification of greater omentum. Angio-MRI showed occlusive micro-arterial injuries. Laparoscopic biopsy of greater omentum revealed multinucleated giant Touton CD68+, CD1A- cells. This finding is pathognomonic of Erdheim-Chester Disease, a rare non-Langerhans histiocytosis. Mulher de 69 anos admitida por hemiparésia esquerda súbita tendo a tomografia computadorizada (TC) encefálica excluído lesões agudas. Internada com o diagnóstico de acidente vascular cerebral isquémico. O quadro neurológico reverteu completamente em menos de 24 horas e o estudo etiológico revelou-se normal. Apurou-se uma história concomitante de ingestão de 6 litros de água por dia nos últimos 2 anos e a prova de restrição hídrica seguida pela administração de desmopressina confirmaram diagnóstico de diabetes insípida central. A ressonância magnética (RM) encefálica foi normal. TC de corpo revelou espessamento da parede arterial sugestivo de vasculite de grandes e médios vasos, fibrose retroperitoneal, infiltração perinefrítica, espessamento pleural e pericárdico e densificação difusa do grande epíploon com o estudo por angio-RM revelando lesões oclusivas micro-arteriais. Biópsia laparoscópica do grande epíploon revelou células gigantes multinucleadas de Touton CD68+, CD1A-, patognomónicas de doença de Erdheim-Chester, uma histiocitose não-Langerhans rara. more...

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2019 Submitted by Sofia Amador (sofiamador@fm.ul.pt) on 2020-04-27T13:47:57Z No. of bitstreams: 1 JoaoCCastelao.pdf: 503800 bytes, checksum: f0abd466232f771c9fe44811cb4c70da (MD5) Made available in DSpace on 2020-04-27T15:01:16Z (GMT). No. of bitstreams: 1 JoaoCCastelao.pdf: 503800 bytes, checksum: f0abd466232f771c9fe44811cb4c70da (MD5) Previous issue date: 2019 more...

Excreció; Genètica humana; Mutació Excreción; Genética humana; Mutación Excretion; Human genetics; Mutation Introduction Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS. Methods Clinical data were retrieved from the referral centers. The exon regions and flanking intronic sequences of the CLCNKB gene were screened for mutations by polymerase chain reaction (PCR) followed by direct Sanger sequencing. Presence of gross deletions or duplications in the region was checked for by MLPA and QMPSF analyses. Results Polyuria, polydipsia and dehydration were the main common symptoms. Metabolic alkalosis and hypokalemia of renal origin were detected in all patients at diagnosis. Calciuria levels were variable: hypercalciuria was detected in 31% of patients, while 23% had hypocalciuria. Nephrocalcinosis was diagnosed in 20% of the cohort. Two novel CLCNKB mutations were identified: a small homozygous deletion (c.753delG) in one patient and a small deletion (c.1026delC) in another. The latter was present in compound heterozygosis with the already previously described p.Glu442Gly mutation. No phenotypic association was obtained regarding the genotype. Conclusion A poor correlation was found between a specific type of mutation in the CLCNKB gene and type III BS phenotype. Importantly, two CLCNKB mutations not previously described were found in our cohort This study was supported by two grants (PI09/90888 and PI11/01412) from the FIS of the Instituto de Salud Carlos III, Madrid, Spain, the Department of Health of the Basque Government (2014111064), and the Department of Education of the Basque Government (IT795-13). more...

O estágio curricular a que se refere o presente relatório decorreu entre os dias 1 de se-tembro de 2014 e 2 de março de 2015 no Hospital Veterinário do Baixo Vouga. Este permitiu o acompanhamento de uma grande variedade de casuística no âmbito da clinica médica e cirúr-gica. A monografia redigida tem como tema a abordagem diagnóstica à poliúria e polidipsia no cão e no gato. Estas apresentações clinicas são causas frequentes de consulta veterinária. O mecanismo base para o seu aparecimento pode ser poliúria com polidipsia compensatória ou polidipsia com poliúria compensatória. Uma das causas destas apresentações clinicas é a dia-betes insipidus central, doença provocada por uma insuficiente síntese ou secreção de hormo-na antidiurética e sobre a qual incide o caso clinico apresentado; Abstract: Small animal medicine and surgery This report describes the activities developed in the externship performed between Sep-tember 1st, 2014 and March 2nd, 2015 in the Baixo Vouga Veterinary Hospital. This externship allowed for the monitoring of a wide variety of cases within the scope of the clinical medicine and surgery. The thesis has as its theme the diagnostic approach to polyuria and polydipsia in dogs and cats. These clinical signs are common causes of veterinary consultation. The base mechanism for its appearance can be polyuria with compensatory polydipsia or polydipsia with compensatory polyuria. One of the causes of this clinical presentation is central diabetes insipi-dus, a disease caused by an insufficient synthesis or secretion of antidiuretic hormone, and the focus of the presented clinical case. more...

The beneficial effect of clozapine on polydipsia and water intoxication in patients with schizophrenia has been demonstrated many times. The authors report a successful clozapine treatment of polydipsia, intermittent water intoxication, and delusional jealousy of an alcoholic. This is a rare case of clozapine treatment of a non-schizophrenic patient affected by polydipsia. more...

La acidosis tubular renal distal (ATRD) o ATR tipo I se caracteriza por una disminución en la excreción urinaria de los hidrogeniones H+ y del amonio. En los niños afectados por ATRD hay retraso en el crecimiento, vómito, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipopotasemia. En este trabajo se resumen los avances en el estudio genético de la ATRD en las poblaciones hasta ahora estudiadas. La ATRD es heterogénea, por lo que también se analizan los transportadores y canales iónicos que se han identificado hasta ahora en las células intercaladas alfa del túbulo colector, y que podrían explicar los casos de ATRD que no se asocian con los genes hasta ahora estudiados. La ATRD puede ser autosómica dominante o autosómica recesiva. La ATRD autosómica recesiva se manifiesta en los primeros meses de vida, cursa con nefrocalcinosis y sordera temprana o tardía. La ATRD autosómica dominante es menos severa y aparece en la adolescencia o en la etapa adulta, y puede o no presentar nefrocalcinosis. En las células intercaladas alfa de los túbulos colectores se lleva a cabo la excreción urinaria de la carga ácida: los ácidos titulables (fosfatos) y el amonio. La ATRD autosómica recesiva se asocia con mutaciones en los genes ATP6V1B1, ATP6V0A4 y SLC4A1, los cuales codifican las subunidades a4 y B1 de la V-ATPasa y el intercambiador de bicarbonato/cloruro AE1, respectivamente. En contraste, la ATRD autosómica dominante se relaciona con mutaciones solo en AE1. more...

La acidosis tubular renal distal (ATRD) o ATR tipo I se caracteriza por una disminución en la excreción urinaria de los hidrogeniones H+ y del amonio. En los niños afectados por ATRD hay retraso en el crecimiento, vómito, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipopotasemia. En este trabajo se resumen los avances en el estudio genético de la ATRD en las poblaciones hasta ahora estudiadas. La ATRD es heterogénea, por lo que también se analizan los transportadores y canales iónicos que se han identificado hasta ahora en las células intercaladas alfa del túbulo colector, y que podrían explicar los casos de ATRD que no se asocian con los genes hasta ahora estudiados. La ATRD puede ser autosómica dominante o autosómica recesiva. La ATRD autosómica recesiva se manifiesta en los primeros meses de vida, cursa con nefrocalcinosis y sordera temprana o tardía. La ATRD autosómica dominante es menos severa y aparece en la adolescencia o en la etapa adulta, y puede o no presentar nefrocalcinosis. En las células intercaladas alfa de los túbulos colectores se lleva a cabo la excreción urinaria de la carga ácida: los ácidos titulables (fosfatos) y el amonio. La ATRD autosómica recesiva se asocia con mutaciones en los genes ATP6V1B1, ATP6V0A4 y SLC4A1, los cuales codifican las subunidades a4 y B1 de la V-ATPasa y el intercambiador de bicarbonato/cloruro AE1, respectivamente. En contraste, la ATRD autosómica dominante se relaciona con mutaciones solo en AE1. Distal renal tubular acidosis (dRTA) or RTA type I is characterised by reduced H+ hydrogen ions and ammonium urinary excretion. In children affected by dRTA there is stunted growth, vomiting, constipation, loss of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and muscle paralysis due to hypokalaemia. This work summarises progress made in dRTA genetic studies in populations studied so far. DRTA is heterogeneous and as such, transporters and ion channels are analysed which have been identified in alpha-intercalated cells of the collecting duct, which could explain cases of dRTA not associated with the hitherto studied genes. DRTA can be autosomal dominant or autosomal recessive. Autosomal recessive dRTA appears in the first months of life and progresses with nephrocalcinosis and early or late hearing loss. Autosomal dominant dRTA is less severe and appears during adolescence or adulthood and may or may not develop nephrocalcinosis. In alpha-intercalated cells of the collecting duct, the acid load is deposited into the urine as titratable acids (phosphates) and ammonium. Autosomal recessive dRTA is associated with mutations in genes ATP6V1B1, ATP6V0A4 and SLC4A1, which encode subunits a4 and B1 of V-ATPase and the AE1 bicarbonate/chloride exchanger respectively. By contrast, autosomal dominant dRTA is only related to mutations in AE1. more...

Fil: Coppo, José Antonio. Universidad Nacional del Nordeste. Facultad de Ciencias Veterinarias; Argentina. Se efectúa una actualización sobre el diagnóstico del síndrome poliuria–polidipsia en pequeños animales. Se revisan temas referidos a la etiología, patogenia, sintomatología, curso y opciones terapéuticas de dicho síndrome. Se resalta la importancia diagnóstica de la osmolalidad de plasma y orina, así como del esclarecimiento de las causas de proteinuria y glucosuria. Se discute la utilidad de un algoritmo diagnóstico que incluye pruebas de privación de agua y respuesta a la hormona antidiurética. Dado que este intrincado síndrome constituye uno de los más arduos desafíos de la medicina veterinaria, se enfatiza la necesidad de una constante actualización para arribar a diagnósticos más certeros. A review on the diagnosis of the polyuria–polydipsia syndrome in small animals is presented. Themes referred to etiology, pathogeny, symptoms, curse, and therapeutic alternatives of this syndrome, are revised. Diagnostic importance of plasmatic and urinary osmolality determination, as well as clarification of the causes of proteinuria and glucosuria, are stood out. Utility of a diagnostic algorithm that includes water privation test and vasopressin hormone response is discussed. The necessity of a constant improvement to arrive to better diagnoses is emphasized, especially because this intricate syndrome constitutes one of the most arduous challenges in veterinary medicine. more...

A área de investigação sobre comportamento adjunto, cujas pesquisas tiveram início na década de 60, é extensa e controvertida. O presente trabalho analisa as interpretações mais importantes do fenômeno, e mostra que diversas características apresentadas como próprias do comportamento adjunto também estão presentes em outros comportamentos. Falk interpretou o comportamento adjunto como atividade deslocada, Staddon como comportamento induzido por esquema, Timberlake como parte de um sistema comportamental pré-programado, e Wetherington questionou a existência de uma terceira classe de comportamento. Conclui-se que as tentativas de sistematização têm se mostrado incompletas devido à diversidade de topografias de comportamentos adjuntos e a sua dependência de variáveis tanto do esquema como da espécie e do ambiente. Dated from the sixties, the research field of adjunctive behavior is extensive and controversial. This review presents an analysis of the main theoretical interpretations of the phenomenon, and demonstrates that many of the features considered to be characteristic of adjunctive behavior are also present in non adjunctive behavior. Falk has interpreted adjunctive behavior as displaced activity, Staddon as schedule-induced behavior, Timberlake as a part of a pre-programmed behavioral system, and Wetherington has called into question the existence of a third class of behavior. It is concluded that all theoretical approaches appear to be incomplete due to the diversity of adjunctive behavior topographies and to their dependence on species and environmental variables, besides schedule parameters. more...

El síndrome poliuria-polidipsia (PU/PD) es una entidad clínica que se presenta como signo predominante de numerosos procesos del perro y del gato. Tras un recuerdo fisiológico de los factores reguladores de la homeostasis del agua, presentamos las distintas etiologías responsables del síndrome PU/PD y los mecanismos fisiopatológicos implicados. Posteriormente se indican las pruebas laboratoriales más adecuadas para el diagnóstico y se recomienda una sistemática para abordar el diagnóstico diferencial. Terminamos exponiendo 8 casos clínicos en los que se plantean las historias, exploración y pruebas laboratoriales, discutiéndose finalmente el diagnóstico de los mismos. The polyuria-polydipsia syndrorne (PU/PD) is a clinical picture that is present in a lot of diseases of dog and cat. Firstly we study a physiologycal revision of mechanisms that control the homeostasis of the water, and after we describe the different causes of its physiopathology. The laboratory test more adecuated for the diagnosis are indicated and so the best way to do the differential diagnosis. Eventually we finish with clinical history, symptonms and laboratory findings are studied to arrive a diagnosis. more...