pseudohypoaldosteronism/повръщане

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[Pseudohypoaldosteronism type 1: an uncommon electrolyte emergency. Report of four cases].

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Вход / Регистрация

Pseudohypoaldosteronism type 1 is a rare syndrome of resistance to aldosterone manifested by salt wasting, hyponatremia, hyperkalemia, hyperchloremic metabolic acidosis, and hiperreninemic hyperaldosteronism. The syndrome may be genetic, secondary to uropathies and urinary tract infection among

Pseudohypoaldosteronism. Clinical, biochemical and morphological studies in a long-term follow-up.

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A boy with pseudohypoaldosteronism was followed from birth to the age of 7 years. Failure to thrive, vomiting, dehydration, hyponatraemia and urinary sodium loss were prominent findings. Urinary excretion of corticosteroid metabolites was normal. Before treatment, excessively high plasma renin

An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.

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A 3-month-old boy presented with failure to thrive and a history of a prenatally detected unilateral hydroureteronephrosis which was confirmed after birth. His growth and developmental milestones had been normal during the first 2 months but in the third month his appetite was poor with reduced

Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1.

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Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the

Pseudohypoaldosteronism presenting as acute gastroenteritis: report of one case.

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Pseudohypoaldosteronism type I, a disorder of mineralocorticoid resistance, usually presents with excessive renal sodium wasting and subsequent poor growth. We report a 1-month-old male baby who suffered from recurrent vomiting, diarrhea and dehydration. Biochemical investigations showed

[Neonatal pseudohypoaldosteronism: when a denied truth can delay a diagnosis].

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A child with neonatal pseudohypoaldosteronism is referred. The diagnosis was delayed and complicated as her parents didn't tell us that her sister had been affected by the same illness. The child was born after premature rupture of membranes at 34 weeks. At birth, her conditions were satisfactory.

A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.

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Вход / Регистрация

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease characterized by resistance to aldosterone, and the renal form of PHA1 is associated with heterozygous inactivating mutations in NR3C2, which encodes mineralocorticoid receptor (MR). Here we report a case of renal PHA1 due to a novel

Presumptive pseudohypoaldosteronism secondary to chronic urinary tract obstruction from sloughed urinary bladder mucosa and urinary tract infection in a cat.

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OBJECTIVE To describe a case of presumptive secondary pseudohypoaldosteronism (PHA) in a cat with urinary tract infection and chronic urethral obstruction. The obstruction was believed to have resulted from sloughed urinary bladder mucosa secondary to pressure necrosis. METHODS A 5-year-old, 4 kg,

Pseudohypoaldosteronism with pyloric stenosis--a patient report.

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A 53 day-old infant was referred for failure to thrive and persistent vomiting with severe dehydration. He had hyponatremia and hyperkalemia. Pyloric stenosis was diagnosed by means of sonography. Poor weight gain, hyponatremia and hyperkalemia were still found after Fredet-Ramsted pyloromyotomy. A

Transient pseudohypoaldosteronism secondary to posterior urethral valves--a case report and review of the literature.

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In transient pseudohypoaldosteronism (TPHA), renal tubular resistance to aldosterone is thought to be secondary to renal disease. We report a case of TPHA caused by posterior urethral valves associated with urinary tract infection and review 62 cases previously reported. The infant presented with

Pseudohypoaldosteronism in a female infant and her family: diversity of clinical expression and mode of inheritance.

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Pseudohypoaldosteronism was diagnosed in an infant that clinically presented severe failure to thrive and vomiting. Evaluation of her extended family revealed many other affected family members with a vast range of clinical expression. The mode of inheritance is most likely autosomal dominant. Salt

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

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Вход / Регистрация

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease characterized by neonatal renal salt wasting, vomiting, dehydration and failure to thrive. Affected patients present hyponatremia, hyperkalemia, associated with high levels of plasma renin and aldosterone resulting from a renal or

Congenital pseudohypoaldosteronism: case report and review. Effect of indomethacin during sodium chloride depletion.

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A newborn boy (birth weight 2550 g) presented from the first days of life with poor drinking, moderate vomiting and persistent weight loss. On hospital admission at age 4 weeks, there were severe dehydration, dystrophy and electrolyte disturbances (Na 107, Cl 80, K 5,4 mval/l). The usual causes of

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.

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The systemic form of pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized by defective sodium transport in multi-organ systems. Mutations in the genes encoding the amiloride-sensitive epithelial sodium channel, ENaC, account for genetic causes of

Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia.

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Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with

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