ライフサイエンスコーパス: salt-wasting

1 rientation and cleavage of ENaC, despite the salt wasting.

2 /Cl(-) cotransporter (NCC) manifest profound salt wasting.

3 with a complex phenotype that includes renal salt wasting.

4 antidiuretic hormone secretion and cerebral salt wasting.

5 sh these possibilities, focusing on cerebral salt wasting.

6 antidiuretic hormone secretion and cerebral salt wasting.

7 Presentations vary from neonatal salt wasting and atypical genitalia, to adult presentati

8 w a similar phenotype to Bartter syndrome of salt wasting and dehydration due to reduced Na-K-2Cl-cot

9 nversely, low circulating aldosterone causes salt wasting and hypotension.

10 As loss-of-function mutations lead to salt wasting and low blood pressure, it has been surmise

11 In salt wasting and nonclassical CAH, a phenotype can be at

12 Pendrin/NCC double KO mice displayed severe salt wasting and sharp increase in urine output under ba

13 uncommon inherited disorder characterized by salt-wasting and end-organ unresponsiveness to mineraloc

14 us died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartt

15 )5.1, may have tubulopathy with hypokalemia, salt wasting, and hearing loss.

16 haracterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis, we identified hetero

17 th kinases would lead to polyuria and severe salt-wasting, and generated SPAK/OSR1 double knockout mi

18 lls and with purified enzymes differed among salt-wasting- and nonclassical-associated variants, but

19 ting both kinases causes severe polyuria and salt-wasting by generating SPAK/OSR1 double knockout (DK

20 A total of 143 patients with salt-wasting CAH were identified; none were missed.

21 Sensitivity of the screening for salt-wasting CAH.

22 mprove the growth of children with polyuric, salt-wasting CRI.

23 ting at birth with failure to thrive, severe salt-wasting crises associated with isolated hypoaldoste

24 cy, which cause potentially life-threatening salt-wasting crisis early in life, have been associated

25 The term cerebral salt wasting (CSW) was introduced before the syndrome of

26 mutations to these subunits can lead to the salt wasting disease pseudohypoaldosteronism type I, ass

27 ron(2,3), and mutations in the NCC cause the salt-wasting disease Gitelman syndrome(4).

28 hannel defective in gating that leads to the salt-wasting disease pseudohypoaldosteronism type I, was

29 CYP21A2 cause complete loss of function and salt-wasting disease.

30 ected diagnosis of Bartter syndrome, a renal salt-wasting disease.

31 de diarrhea in an infant with presumed renal salt-wasting disease.

32 th chronic renal failure caused by polyuric, salt-wasting diseases may be hampered if ongoing sodium

33 utations in hENaC result in hypertensive and salt-wasting diseases.

34 ey, and its dysfunction is associated with a salt-wasting disorder known as Bartter syndrome.

35 give rise to Gitelman syndrome, a hereditary salt-wasting disorder thought in most cases to arise fro

36 prising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and senso

37 n and that it may, in fact, exert a relative salt-wasting effect.

38 hydroxylase deficiency (25 children with the salt-wasting form and 13 with the simple virilizing form

39 or CAH was highly effective in detecting the salt-wasting form and thereby reducing mortality.

40 yperplasia (CAH) owing to low sensitivity in salt-wasting forms and a high rate of recall (ie, a posi

41 Aldosterone synthase deficiency, salt-wasting forms of congenital adrenal hyperplasia, an

42 erited hypokalaemic alkalosis resulting from salt-wasting has proved fertile ground for identificatio

43 zed by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis.

44 orption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic alkalosis, hypercalciuria and

45 ds out since the CA12(E143K) mutation causes salt wasting in sweat and dehydration in humans.

46 Recent studies suggest that cerebral salt wasting is a rare cause of hyponatremia.

47 When cerebral salt wasting is diagnosed, it is often difficult to make

48 e kidney-specific MR-knockout mice exhibited salt wasting, low BP, and hyperkalemia.

49 tion of Kir4.1 in these mice led to moderate salt wasting, low BP, and profound potassium wasting.

50 characterized by hypokalaemic alkalosis with salt-wasting, low blood pressure, normal magnesium and h

51 channel cause Bartter's disease, a familial salt wasting nephropathy.

52 hypomagnesaemia, hypocalciuria and displayed salt wasting on switching to a low-Na diet.

53 le deletion of pendrin or NCC does not cause salt wasting or excessive diuresis under basal condition

54 ve P450 21A2 variants associated with either salt-wasting or nonclassical forms of CAH were expressed

55 tations can be associated either with severe salt-wasting or simple virilizing phenotypes or with mil

56 CaR mutations with a Bartter syndrome-like, salt-wasting phenotype, but the precise mechanism for th

57 ssing predisposes hepsin-deficient mice to a salt-wasting phenotype, with a decreased salt sensitivit

58 with one of three known forms of CAH, namely salt wasting, simple virilizing, or nonclassical CAH.

59 The word 'cerebral' in 'cerebral salt wasting syndrome' can thus be inappropriate, convey

60 oss-of-function mutations of NCC cause renal salt wasting with arterial hypotension (Gitelman syndrom

61 I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemi

62 EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with