A rare cause of neonatal salt wasting: primary pseudohypoaldosteronism
نویسندگان
چکیده
منابع مشابه
A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronism.
Aldosterone-dependent epithelial sodium transport in the distal nephron is mediated by the absorption of sodium through the highly selective, amiloride-sensitive epithelial sodium channel (ENaC) made of three homologous subunits (alpha, beta, and gamma). In human, autosomal recessive mutations of alpha, beta, or gammaENaC subunits cause pseudohypoaldosteronism type 1 (PHA-1), a renal salt-wasti...
متن کاملNeonatal idiopathic primary hypoparathyroidism: A rare cause of neonatal seizures
Etiology of neonatal seizures (NNS) is diverse and hypocalcemia is one of the treatable causes. Neonatal hypocalcemia (NHC) due to congenital hypoparathyroidism, either permanent or transient, is extremely rare. Its biochemical abnormalities include hypocalcemia, hyperphosphatemia and low levels of intact parathyroid hormone (PTH). Isolated congenital hypoparathyroidism in which deficiency of P...
متن کاملPrimary Epidural Varicosis as a Rare Cause of Sciatica: A Case Report
Non-discogenic sciatica can be caused by any lesion along the course of the lumbosacral nerve roots and sciatic nerve. We aim to present a rare case of refractory sciatica in an otherwise healthy 25-year-old man. He complained of left leg pain without significant back pain. Extensor hallucis longus muscle was weak on the left side with limited straight leg rising. On magnetic resonance imaging,...
متن کاملA rare cause of neonatal persistent jaundice.
Oliveira GN, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-223306 Description A 22-year-old gravida 2, para 1 (G2P1) woman with immunoglobulin anti-D prophylaxis, insulin-treated gestational diabetes and first-trimester cytomegalovirus (CMV) infection vaginally delivered a 39-week boy weighing 3720 g (90th centile) and with Apgar scores of 8 and 10 at 1 and 5 min. Prenatal ultrasonographic ass...
متن کاملOsteopoikilosis: a rare cause of bone pain
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: SiSli Etfal Hastanesi Tip Bulteni / The Medical Bulletin of Sisli Hospital
سال: 2015
ISSN: 1302-7123,1308-5123
DOI: 10.5350/semb.20141103060305