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Hypokalemic alkalosis

MedGen UID:
43208
Concept ID:
C0085570
Disease or Syndrome
SNOMED CT: Hypokalemic alkalosis (22774003)
 
HPO: HP:0001949

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypokalemic alkalosis

Conditions with this feature

Liddle syndrome
MedGen UID:
67439
Concept ID:
C0221043
Disease or Syndrome
Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.\n\nIn addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.
Deficiency of steroid 17-alpha-monooxygenase
MedGen UID:
82782
Concept ID:
C0268285
Disease or Syndrome
17 alpha(a)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17a-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17a-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.\n\nHormone imbalances lead to the characteristic signs and symptoms of 17a-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17a-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17a-hydroxylase/17,20-lyase deficiency, which is typically less so.\n\nMales and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17a-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17a-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17a-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility).\n\nIn affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17a-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female. Males with partial 17a-hydroxylase/17,20-lyase deficiency may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17a-hydroxylase/17,20-lyase deficiency are also infertile.
Familial hypokalemic alkalosis, Gullner type
MedGen UID:
78677
Concept ID:
C0268444
Disease or Syndrome
Familial hypokalemia-hypomagnesemia
MedGen UID:
75681
Concept ID:
C0268450
Disease or Syndrome
Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.

Professional guidelines

PubMed

Yun Y, Park SS, Lee S, Seok H, Park S, Lee SY
Int J Mol Sci 2023 Dec 3;24(23) doi: 10.3390/ijms242317077. PMID: 38069401Free PMC Article
Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O
Pediatr Nephrol 2007 Mar;22(3):326-32. Epub 2006 Oct 24 doi: 10.1007/s00467-006-0321-1. PMID: 17061123
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Recent clinical studies

Etiology

Abdul Aziz D, Siddiqui F, Abbasi Q, Iftikhar H, Shahid S, Mir F
J Cyst Fibros 2022 May;21(3):514-518. Epub 2021 Oct 2 doi: 10.1016/j.jcf.2021.09.013. PMID: 34610890
Leung JC
Curr Pediatr Rev 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. PMID: 25088262
Carey RM
Horm Res 2009 Jan;71 Suppl 1:8-12. Epub 2009 Jan 21 doi: 10.1159/000178029. PMID: 19153497
Torpy DJ, Mullen N, Ilias I, Nieman LK
Ann N Y Acad Sci 2002 Sep;970:134-44. doi: 10.1111/j.1749-6632.2002.tb04419.x. PMID: 12381548
Helfant RH
Am J Med 1986 Apr 25;80(4A):13-22. doi: 10.1016/0002-9343(86)90336-0. PMID: 3706349

Diagnosis

Lu YT, Zhang D, Zhang QY, Zhou ZM, Yang KQ, Zhou XL, Peng F
J Transl Med 2022 Nov 3;20(1):500. doi: 10.1186/s12967-022-03698-9. PMID: 36329487Free PMC Article
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium
J Am Soc Nephrol 2022 Feb;33(2):305-325. Epub 2021 Oct 4 doi: 10.1681/ASN.2021050596. PMID: 34607911Free PMC Article
Carey RM
Horm Res 2009 Jan;71 Suppl 1:8-12. Epub 2009 Jan 21 doi: 10.1159/000178029. PMID: 19153497
Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O
Pediatr Nephrol 2007 Mar;22(3):326-32. Epub 2006 Oct 24 doi: 10.1007/s00467-006-0321-1. PMID: 17061123
Abraham MR, Jahangir A, Alekseev AE, Terzic A
FASEB J 1999 Nov;13(14):1901-10. doi: 10.1096/fasebj.13.14.1901. PMID: 10544173

Therapy

Kino T, Vottero A, Charmandari E, Chrousos GP
Ann N Y Acad Sci 2002 Sep;970:101-11. doi: 10.1111/j.1749-6632.2002.tb04416.x. PMID: 12381545
Helfant RH
Am J Med 1986 Apr 25;80(4A):13-22. doi: 10.1016/0002-9343(86)90336-0. PMID: 3706349
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JAMA 1976 Aug 23;236(8):956-7. PMID: 7687

Prognosis

Yau M, Haider S, Khattab A, Ling C, Mathew M, Zaidi S, Bloch M, Patel M, Ewert S, Abdullah W, Toygar A, Mudryi V, Al Badi M, Alzubdi M, Wilson RC, Al Azkawi HS, Ozdemir HN, Abu-Amer W, Hertecant J, Razzaghy-Azar M, Funder JW, Al Senani A, Sun L, Kim SM, Yuen T, Zaidi M, New MI
Proc Natl Acad Sci U S A 2017 Dec 26;114(52):E11248-E11256. Epub 2017 Dec 11 doi: 10.1073/pnas.1716621115. PMID: 29229831Free PMC Article
Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP
Pediatr Nephrol 2012 Nov;27(11):2081-2090. Epub 2012 Aug 21 doi: 10.1007/s00467-012-2219-4. PMID: 22907601
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Clinical prediction guides

Jeck N, Seyberth HW
Nephron Physiol 2011;118(1):p7-14. Epub 2010 Nov 11 doi: 10.1159/000320882. PMID: 21071987
Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O
Pediatr Nephrol 2007 Mar;22(3):326-32. Epub 2006 Oct 24 doi: 10.1007/s00467-006-0321-1. PMID: 17061123
Torpy DJ, Mullen N, Ilias I, Nieman LK
Ann N Y Acad Sci 2002 Sep;970:134-44. doi: 10.1111/j.1749-6632.2002.tb04419.x. PMID: 12381548
Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G
J Pediatr 1992 Jan;120(1):38-43. doi: 10.1016/s0022-3476(05)80594-3. PMID: 1731022
Helfant RH
Am J Med 1986 Apr 25;80(4A):13-22. doi: 10.1016/0002-9343(86)90336-0. PMID: 3706349

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