Pseudohypoaldosteronism type 1: A rare cause of severe dyselectrolytemia and cardiovascular collapse in neonates
نویسندگان
چکیده
منابع مشابه
Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the mineralocorticoid receptor (MR). Independent segregation of the mutations occurred in the family, ...
متن کاملthe investigation of the relationship between type a and type b personalities and quality of translation
چکیده ندارد.
Severe systemic type 1 pseudohypoaldosteronism: 5 years of evolution.
ype 1 pseudohypoaldosteronism (PHA-1) was first described n 1958 by Cheek and Perry.1 It is a rare syndrome of aldoserone unresponsiveness, expressed in two forms: renal HA-1 and systemic PHA-1.2,3 Renal PHA-1 results from autoomal dominant mutations in the kidney mineralocorticoid eceptor. As the mineralocorticoid resistance is limited to ne organ, the phenotype is milder and often improves sp...
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DESCRIPTION A full-term baby girl weighing 2.9 kg was born by normal delivery. The anomaly scan at 20 weeks (including a 3D facial scan) was normal. She was born in good condition, but was noticed to have bilateral purple-coloured tense mobile, non-pulsatile masses below the medial canthus (figure 1). At 6 h of age, she had a cyanotic episode with airway obstruction soon after feeding. She unde...
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Background: Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during x-rays made by other reasons. We present a case of 34-year-old man suffering from polyarthralgia an...
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ژورنال
عنوان ژورنال: Journal of Clinical Neonatology
سال: 2012
ISSN: 2249-4847
DOI: 10.4103/2249-4847.106007