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Pseudohypoaldosteronism

MedGen UID:
18721
Concept ID:
C0033805
Disease or Syndrome
Synonym: Pseudohypoaldosteronisms
SNOMED CT: Pseudohypoaldosteronism (77098009); Pseudohypoadrenocorticalism (77098009)
 
HPO: HP:0008242
Monarch Initiative: MONDO:0018638
Orphanet: ORPHA444916

Definition

A state of renal tubular unresponsiveness or resistance to the action of aldosterone. [from HPO]

Conditions with this feature

Autosomal dominant pseudohypoaldosteronism type 1
MedGen UID:
260623
Concept ID:
C1449842
Disease or Syndrome
Autosomal dominant pseudohypoaldosteronism type I (PHA1A) is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998). Autosomal recessive pseudohypoaldosteronism type I (see PHA1B1, 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood.
Pseudohypoaldosteronism type 2A
MedGen UID:
327088
Concept ID:
C1840389
Disease or Syndrome
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.
Pseudohypoaldosteronism type 2B
MedGen UID:
374457
Concept ID:
C1840390
Disease or Syndrome
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.
Pseudohypoaldosteronism type 2C
MedGen UID:
327089
Concept ID:
C1840391
Disease or Syndrome
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.
Pseudohypoaldosteronism type 2D
MedGen UID:
483335
Concept ID:
C3469605
Disease or Syndrome
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.
Pseudohypoaldosteronism type 2E
MedGen UID:
483336
Concept ID:
C3469606
Disease or Syndrome
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.
Autosomal recessive pseudohypoaldosteronism type 1
MedGen UID:
1823950
Concept ID:
C5774176
Disease or Syndrome
Autosomal recessive pseudohypoaldosteronism type I, including PHA1B1, is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999). A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983). Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968). Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.

Professional guidelines

PubMed

Günay F, Şıklar Z, Berberoğlu M
Turk J Pediatr 2022;64(3):490-499. doi: 10.24953/turkjped.2021.1443. PMID: 35899562
Bandhakavi M, Wanaguru A, Ayuk L, Kirk JM, Barrett TG, Kershaw M, Högler W, Shaw NJ
Eur J Endocrinol 2021 May;184(5):K15-K20. doi: 10.1530/EJE-20-0152. PMID: 33690157
Memoli E, Lava SAG, Bianchetti MG, Vianello F, Agostoni C, Milani GP
Pediatr Nephrol 2020 Apr;35(4):713-714. Epub 2019 Dec 20 doi: 10.1007/s00467-019-04419-z. PMID: 31863208

Recent clinical studies

Etiology

Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC, Savage MO
Rev Endocr Metab Disord 2023 Apr;24(2):345-363. Epub 2023 Feb 10 doi: 10.1007/s11154-023-09784-7. PMID: 36763264Free PMC Article
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Riepe FG
Endocr Dev 2013;24:86-95. Epub 2013 Feb 1 doi: 10.1159/000342508. PMID: 23392097
Hassan-Smith Z, Stewart PM
Curr Opin Endocrinol Diabetes Obes 2011 Jun;18(3):177-85. doi: 10.1097/MED.0b013e3283469444. PMID: 21494136
Popow C, Pollak A, Herkner K, Scheibenreiter S, Swoboda W
Acta Paediatr Scand 1988 Jan;77(1):136-41. doi: 10.1111/j.1651-2227.1988.tb10612.x. PMID: 2967023

Diagnosis

Bahena-Lopez JP, Gamba G, Castañeda-Bueno M
Curr Opin Nephrol Hypertens 2022 Sep 1;31(5):471-478. Epub 2022 Jul 15 doi: 10.1097/MNH.0000000000000820. [Epub ahead of print] PMID: 35894282
Riepe FG
Endocr Dev 2013;24:86-95. Epub 2013 Feb 1 doi: 10.1159/000342508. PMID: 23392097
Zennaro MC, Lombès M
Trends Endocrinol Metab 2004 Aug;15(6):264-70. doi: 10.1016/j.tem.2004.06.003. PMID: 15358279
Dillon MJ, Leonard JV, Buckler JM, Ogilvie D, Lillystone D, Honour JW, Shackleton CH
Arch Dis Child 1980 Jun;55(6):427-34. doi: 10.1136/adc.55.6.427. PMID: 7002056Free PMC Article
Dillon MJ
Eur J Clin Pharmacol 1980 Jul;18(1):105-8. doi: 10.1007/BF00561486. PMID: 6249611

Therapy

Furusho T, Uchida S, Sohara E
Hypertens Res 2020 Aug;43(8):733-743. Epub 2020 Apr 14 doi: 10.1038/s41440-020-0437-x. PMID: 32286498
Bergaya S, Vidal-Petiot E, Jeunemaitre X, Hadchouel J
Curr Opin Nephrol Hypertens 2012 Jan;21(1):39-45. doi: 10.1097/MNH.0b013e32834d2fde. PMID: 22080857
Huang CL, Kuo E, Toto RD
Curr Opin Nephrol Hypertens 2008 Mar;17(2):133-7. doi: 10.1097/MNH.0b013e3282f4e4fd. PMID: 18277144
Zennaro MC
Steroids 1996 Apr;61(4):189-92. doi: 10.1016/0039-128x(96)00011-6. PMID: 8732998
Proesmans W, Geussens H, Corbeel L, Eeckels R
Am J Dis Child 1973 Oct;126(4):510-6. doi: 10.1001/archpedi.1973.02110190418013. PMID: 4783665

Prognosis

Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Smith DJ, Gaffney EA, Blake JR
Respir Physiol Neurobiol 2008 Nov 30;163(1-3):178-88. Epub 2008 Mar 20 doi: 10.1016/j.resp.2008.03.006. PMID: 18439882
Popow C, Pollak A, Herkner K, Scheibenreiter S, Swoboda W
Acta Paediatr Scand 1988 Jan;77(1):136-41. doi: 10.1111/j.1651-2227.1988.tb10612.x. PMID: 2967023
Dillon MJ
Eur J Clin Pharmacol 1980 Jul;18(1):105-8. doi: 10.1007/BF00561486. PMID: 6249611

Clinical prediction guides

Adachi M, Motegi S, Nagahara K, Ochi A, Toyoda J, Mizuno K
Endocr J 2023 Jul 28;70(7):723-729. Epub 2023 May 19 doi: 10.1507/endocrj.EJ22-0607. PMID: 37081692
Bahena-Lopez JP, Gamba G, Castañeda-Bueno M
Curr Opin Nephrol Hypertens 2022 Sep 1;31(5):471-478. Epub 2022 Jul 15 doi: 10.1097/MNH.0000000000000820. [Epub ahead of print] PMID: 35894282
San-Cristobal P, de los Heros P, Ponce-Coria J, Moreno E, Gamba G
Am J Nephrol 2008;28(5):860-70. Epub 2008 Jun 12 doi: 10.1159/000139639. PMID: 18547946Free PMC Article
Smith DJ, Gaffney EA, Blake JR
Respir Physiol Neurobiol 2008 Nov 30;163(1-3):178-88. Epub 2008 Mar 20 doi: 10.1016/j.resp.2008.03.006. PMID: 18439882
Dillon MJ
Eur J Clin Pharmacol 1980 Jul;18(1):105-8. doi: 10.1007/BF00561486. PMID: 6249611

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