Sergio braga endocrinologista


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Glucose and insulin infusion, calcium gluconate, sodium bicarbonate and nebulized salbutamol were tapered and stopped and potassium controlled with high dose of ion exchange resin. This occurs probably due to impaired ability to absorb liquid from airway surfaces. It remains uncertain if there is genotype—phenotype correlation, due to the rarity of the disease. PHA 1 can be differentiated clinically from CAH by an earlier onset and by no response to steroid therapy, given the delay in obtaining results for many hormonal assays. Ha, Y. Ranjith, S.

  • An uncommon case of MarineLenhart syndrome

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    About sonia gandhi. representante na iPa Sérgio Cabral Cláudia Tanuri e Sérgio Tadeu Martins Marba . Coordenadora: Claudia Braga Monteiro Abadesso.
    CAH is the most frequent cause of severe dehydration, hyponatremia and hyperkalemia in the newborn period, and therefore this was our first diagnosis, supported by a initial high level of hydroxyprogesterone.

    Print Send to a friend Export reference Mendeley Statistics. The most intriguing and interesting aspect of this association is represented not so much by the co-existence of the two diseases, often not easy to ascertain, as by the possibility that they can develop in the same patient over a lifetime.

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    The PHA 1 phenotype of our patient was particularly severe, making normalization of electrolytes a challenging task, only possible with unusually high salt intake as well as continuous ion exchange resin. Therefore, the diagnosis of Marine-Lenhart syndrome remains difficult to be determined, and the simultaneous occurrence of the two diseases is still matter of debate 21 Clinicians should be aware of such a possibility, especially in those patients who are candidate to radioiodine treatment.

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    Arch Intern Med.

    Although it has not been described in the literature, and therefore we do not know the precise effect of the mutation on the ENaC structure and function, its location very closely to the highly conserved donor splice site of intron 3 will most probably affect the RNA splicing of this gene and therefore to a grossly abnormal protein, and should therefore be considered as most likely clinically relevant.

    Severe salt-losing neonatal syndrome: the first case of autosomal recessive pseudohypoaldosteronism type 1 caused by compound heterozygous mutations in the mineralocorticoid receptor gene. Changes in serum TSH levels during the follow-up after radioiodine treatment are shown in figure 3. Another extremely curious fact is that his older sibling has Chediak—Higashi syndrome, another rare genetic disease that has no relationship with PHA 1.

    b Pediatric Department, Division of Pediatric Endocrinology, Hospital Braga, Braga, Portugal.

    c GDPN Doutor Sérgio Castedo, Porto, Portugal. This item has. de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo ( FMUSP).

    An uncommon case of MarineLenhart syndrome

    Médico . Letícia Dinis da Costa Braga . Sergio Setsuo Maeda. Hospital de São João | HSJ · Departamento de Endocrinologia. · MD. Contact. about.

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    He was born at full term with a birth weight of g 10—25th percentile and there were no perinatal problems.

    Hofmann, Z. Corresponding author. Tachibana, Y. Ranjith, S. The two diseases may coexist or may be present at different moments in the same patient.

    Indian J Pediatr, 73pp.

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    Sergio braga endocrinologista
    Si continua navegando, consideramos que acepta su uso. The patient is currently 8. Marthinsen, A.

    Since then he has had recurrences of fluid and electrolyte imbalances necessitating repeated short-term hospitalizations. Figure 4.

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    1. Of interest, affected newborns, as like ours, also manifest a pulmonary syndrome characterized by recurrent episodes of tachypnea and fever, mimicking respiratory infections, but without identifiable bacterial airway infection. Written informed consent was obtained from the patient's parents for publication of this case report.