Hidronefrosis como causa de poliglobulia secundaria / Hydronephrosis as a cause of secondary polyglobulia

La policitemia primaria es producida por una mutación adquirida o heredada en las células progenitoras de los glóbulos rojos, mientras que la poliglobulia secundaria está relacionada con un aumento de la eritropoyetina sérica como respuesta a la hipoxia tisular o a la producción autónoma tumoral. Hace más de medio siglo que se conoce que la hidronefrosis puede actuar como una rara causa de eritrocitosis debido al aumento de producción de eritropoyetina por un riñón que censa una disminución de oxígeno, mecanismo también observado en la estenosis de la arteria renal y en los quistes renales. Se describe a continuación el caso de un paciente de 38 años con poliglobulia atendido en el Hospital Italiano de San Justo (Argentina), que presenta como hallazgo una hidronefrosis unilateral severa y cuya resolución quirúrgica a través de una nefrectomía revierte el cuadro hematológico de base. (AU)

Primary polycythemia is produced by an acquired or inherited mutation in progenitor cells of red blood cells, while secondary polyglobulia is related to an increase in serum erythropoietin in response to tissue hypoxia or autonomous tumor production. Since the middle of the twentieth century, the hydronephrosis is known to be a rare etiology of secondary polycythemia, with increased erythropoietin production caused by diminished oxygen sensing by the kidney, also seen in renal artery stenosis and kidney cysts. We describe a case of a 38 year old patient with polycythemia studied in the "Hospital Italiano de San Justo" (Argentina) that presented an incidental severe unilateral hydronephrosis, and nephrectomy was carried out as a final resolution of the hematological disorder. (AU)

Adult presentation of Bartter syndrome type IV with erythrocytosis / Apresentação tardia de síndrome de Bartter tipo IV com eritrocitose

Abstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.

Resumo A síndrome de Bartter compreende um grupo raro de doenças autossômicas recessivas perdedoras de sal, decorrentes de mutações em genes expressos na porção ascendente espessa da alça de Henle, com fenótipos distintos, porém fisiopatogenia única, que consiste em redução severa da reabsorção de sódio, e aumento da excreção urinária de hidrogênio e potássio, levando à alcalose hipocalêmica. A síndrome de Bartter tipo IV, causada por mutações com perda de função da bartina, uma subunidade do canal de cloro CLC-Kb expressa no rim e ouvido interno, geralmente se apresenta nos períodos ante e neonatal. No presente relato, descreve-se um caso não usual de síndrome de Bartter tipo IV com apresentação tardia e fenótipo atenuado, diagnosticado por análise molecular, em um homem adulto de 20 anos que se apresentava com hipocalemia, surdez, hiperparatireoidismo secundário e eritrocitose.

Corea y eritrocitosis de altura: reporte de caso / Chorea and high altitude erythrocytosis: a case report

La corea es un trastorno del movimiento que tiene a la eritrocitosis como causa poco frecuente. La eritrocitosis o poliglobulia es el aumento de la masa eritrocitaria absoluta y su causa primaria más frecuente es la policitemia vera. Entre las causas secundarias adquiridas figura la eritrocitosis por hipoxia central, como la que ocurre en los habitantes de grandes alturas. La corea es una manifestación neurológica rara de la eritrocitosis, se presenta en 0,5 a 2% de estos pacientes. Se reporta el caso de un paciente de sexo masculino de 71 años de edad que presentó corea generalizada, de inicio súbito, a predominio orolinguofacial y de extremidades inferiores, secundario a eritrocitosis adquirida, que mejoró tras la disminución del hematocrito mediante sesiones sucesivas de flebotomías.

Chorea is a movement disorder which is rarely caused by erythrocytosis. Erithrocytosis or polycythemia is the augmentation of the absolute erythrocytic mass and its most common primary cause is polycythemia vera. Some of the secondary causes are erythrocytosis by central hipoxia occurring in people who live in the highlands. Chore is a rare neurological manifestation of erythrocytosis occurring in 0.5 to 2% of these patients. There was a report of a 71 year-old male patient with generalized chorea of sudden onset predominant in mouth, tongue and face and lower limbs, secondary to acquired erythrocytosis, which improved after the number of erythrocytes decreased through successive sessions of phlebotomy.

Adenoma metanéfrico del riñon asociado a policitemia y eritromelalgia: caso clínico / Metanephric adenoma of the kidney associated with polycythemia and erythromelalgia: Report of one case

Background: We report a 21-year-old male, presenting with erythromelalgia and polycythe-mia. A solid renal mass of the lower pole of the right kidney was discovered. The patient was subjected to a right open partial nephrectomy. The pathological study of the surgical specimen showed a metanephric adenoma of the kidney. The patient had an uneventful postoperative evolution. Currently the patient is in good health without evidence of recurrence of the tumor and normal hematological parameters.

Anesthetic implications of total anomalous systemic venous connection to left atrium with left isomerism.

Total anomalous systemic venous connection (TASVC) to the left atrium (LA) is a rare congenital anomaly. An 11-year-old girl presented with complaints of palpitations and cyanosis. TASVC with left isomerism and noncompaction of LV was diagnosed after contrast echocardiogram and computed tomography angiogram. The knowledge of anatomy and pathophysiology is essential for the successful management of these cases. Anesthetic concerns in this case were polycythemia, paradoxical embolism and rhythm abnormalities. The patient was successfully operated by rerouting the systemic venous connection to the right atrium.

Complicações neonatais do diabetes mellitus gestacional ­ DMG / Neonatal complications of gestacional diabetes mellitus ­ GDM

O diabetes mellitus gestacional (DMG) está associado a um risco aumentado de complicações fetais, neonatais e no desenvolvimento a longo prazo. As taxas de aborto espontâneo, natimorto, mal formações congênitas e morbidade e mortalidade perinatal são maiores em filhos de mães diabéticas. As principais complicações neonatais são: macrossomia, hipoglicemia neonatal, deficiência de ferro, alterações da função cardiorrespiratória, hiperbilirrubinemia, anormalidades neurológicas, hipocalcemia, hipomagnesemia e policitemia. A macrossomia predispõe a lesões do parto, especialmente distócia de ombro, maior risco de lesão do plexo braquial, fraturas de clavícula ou do úmero, asfixia perinatal, e, menos frequentemente, hemorragia subdural e paralisia facial. O controle glicêmico rigoroso pré-concepção e durante a gestação associa-se com menor morbimortalidade perinatal. Assim, o controle do DMG representa tarefa de fundamental importância para impedir sequelas em neonatais. (AU)

The gestational diabetes mellitus (GDM) is associated with an increased risk of fetal, neonatal, and possibly long-term complications. The rates of spontaneous abortion, stillbirth, congenital malformations, and perinatal morbidity and mortality are higher in infants of a diabetic mother than in pregnancies with normal glycemic control. The main neonatal complications are: macrosomia, neonatal hypoglycemia, iron deficiency, changes in cardiac and respiratory function, hyperbilirubinemia, neurological abnormalities, hypocalcemia, hypomagnesemia and polycythemia. Macrosomia predisposes to birth injury, especially shoulder dystocia, increased risk of brachial plexus injury, clavicular or humeral fractures, perinatal asphyxia, and, less often, subdural hemorrhage and facial palsy. Strict glycemic control preconception and during pregnancy is associated with lower perinatal morbidity and mortality. Thus, GDM control is of paramount importance to prevent neonatal harm. (AU)

Hemi-central retinal artery occlusion in young adults.

Amongst the clinical presentations of retinal artery occlusion, hemi-central retinal artery occlusion (Hemi-CRAO) is rarely described. This case series of four adults aged between 22 and 36 years attempts to describe the clinical profile, etiology and management of Hemi-CRAO. Case 1 had an artificial mitral valve implant. Polycythemia and malignant hypertension were noted in Case 2. The third patient had Leiden mutation while the fourth patient had Eisenmenger’s syndrome. Clinical examination and fundus fluorescein angiography revealed a bifurcated central retinal artery at emergence from the optic nerve head, in all cases. Color Doppler examination of the central retinal artery confirmed branching of the artery behind the lamina cribrosa. It is hypothesized that bifurcation of central retinal artery behind the lamina cribrosa may predispose these hemi-trunks to develop an acute occlusion if associated with underlying risk factors. The prognosis depends upon arterial recanalisation and etiology of the thromboembolic event.

Stroke at moderate altitude.

OBJECTIVE: To know the clinical profile, presence of various risk factors for stroke at moderate altitude and to study its relationship with hypertension and polycythemia at moderate altitude. METHODS: We analyzed the data of 100 patients, consecutively admitted to a hospital situated at an moderate altitude of 2200 meters MSL of Sub-Himalayan ranges and studied the age, gender, geographical distribution, clinical features and presence of various risk factors in relation to stroke. This is not only the first study conducted in Himachal Pradesh but also first study in India to be conducted at moderate altitude (2000-3000 meters MSL). RESULTS: Males outnumbered females (66% males, 34% females) with rural predominance (73% rural, 27% urban). Cerebral infarction (69%) was more common but primary intracerebral haemorrhage (26%) was more common than found in the West. Hypertension (62%) and smoking (60%) were most common risk factors present and polycythemia was not a significant risk factor at this altitude. CONCLUSION: Incidence of stroke was found to be lower than the study conducted at low altitude. incidence of various types of stroke was similar to other Indian studies. The combination of opposite effects of decreased hypertension and increased haematocrit could not be demonstrated at this altitude and smoking was more common than in other studies and other risk factors prevalent were same as that for low altitude.

Effect of partial exchange transfusion in asymptomatic polycythemic LBW babies.

This randomized controlled trial was conducted to determine the effect of partial exchange transfusion in polycythemic babies. Forty five asymptomatic polycythemic babies with birth weight < or = 2000 g were included and randomly assigned to undergo either partial exchange transfusion using isotonic saline within 4 hours of screening or routine medical management. Outcome measures were neonatal morbidity (especially hypoglycemia and neurological alterations) and mortality; developmental delays using DDST-II, neurological deficits, tone and DTR abnormalities over 18 months follow up period. The overall neonatal morbidity in this study was low and comparable in the two groups. Some of the polycythemic babies in the non-exchanged group found initially at 3 months age with "suspected development" grew out of their developmental delay at 18 months of age or later while those who underwent exchange transfusion and with retarded development at 3 months of age remained so even at 18 months of age.

Fallot's tetralogy presenting with variceal bleed.

The erythrocytosis of Fallot's tetralogy may lead to spontaneous thrombosis at any site, but splenic vein thrombosis and variceal bleed is rarely a presentation of Fallot's tetralogy. A case of a 48 years old female with undiagnosed Fallot's tetralogy, presenting with variceal bleed due to splenic vein thrombosis, is reported. It is also interesting to note that the patient survived till this age without any medical or surgical treatment.

Modificaciones del fibrinógeno en la trombosis en la altura / Fibrinogen changes in the high altitude thrombosis

Los estudios de rutina sobre la hemostasis no son los más indicados para anunciar en una fase precoz el establecimiento de una trombosis. Las anormalidades en el mecanismo de la coagulación de la fibrinolisis o de las plaquetas, están lejos de ser parámetros específicos directos que anuncie un riesgo de Trombosis en un paciente determinado. En los resultados de fibrinógeno y la Fibrinólisis, realizados en nuestro medio, se ha considerado a la hipoxia, como componente importante inductor de la Eritrocitosis en ciertas situaciones patológicas y que este factor agravaría el desarrollo de la trombosis en el nativo de la altura, pero estudios anteriores sobre este tema con relación a la función plaquetaria (Caen, J., Drovet, L. Ergueta J., Rodriguez A. 1972-1977) demostraron no ser evidentes. Realizamos un estudio protocolizado reciente, en 50 individuos nativos de la altura, cuyas edades fluctúan entre los 18 y 20 años de edad, en ellos se provocó una hipoxia local (venostasia) durante 10 minutos, con la finalidad de determinar los siguientes parámetros: Fibrinógeno, Fibrinólisis, Hematocrito y Grupos Sanguíneos, este último dato sirvió para relacionar la frecuencia de trombósis y valor de ésta proteína en los del grupo "O". La Fibrinólisis en ambos sexos nos demostró una aceleración en tiempo de 2 horas 15 minutos con relación a los de la costa que es >=3 horas. En el Hematocrito y la Hemoglobina encontramos que las mujeres del grupo sanguíneo "B" muestran una variación significativa en relación a los otros grupos sanguíneos. Los varones del grupo sanguíneo "A" y "O" mostraron también variaciones importantes.

Parto domiciliario no programado: consecuencias para el recién nacido / Unplanned home delivery consequences to the newborn

Objetivos: Comparar la morbilidad (policitemia, hipotermia, sepsis precoz, convulsiones, hipoglucemia, anemia) y mortalidad entre niños nacidos en su domicilio sin que esto hubiera sido planeado con la de los niños nacidos de parto natural en el Hospital Diego Paroissien. Material métodos: Se revisaron retrospectivamente las historias clínicas de 106 niños nacidos en su domicilio en forma no programada y recibidos vivos en el servicio de Neonatología del Hospital D. Paroissien dentro de las 24 hs posteriores al nacimiento durante el período comprendido entre el 1/1/88 hasta el 31/12/91 inclusive. Estas historias clínicas se compararon con las de un grupo formado por 106 bebes nacidos en el hospital apareados por peso y fecha de nacimiento. Resultados: Se observó mayor frecuencia de policitemia neonatal (22,64 por ciento) en los recién nacidos domiciliarios y de hipotermia al ingreso (28,3 por ciento) vs los niños nacidos en el hospital (p < 0,0001). La mortalidad no presentó diferencias estadísticamente significativas. Conclusiones: Los recién nacidos en domicilio constituyeron una población de alto riesgo (mayor incidencia de policitemia e hipotermia)