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Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema(DHS1)

MedGen UID:
1638271
•Concept ID:
C4551512
•
Disease or Syndrome
Synonyms: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema; DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA; Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema; DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA; DHS1; PSEUDOHYPERKALEMIA EDINBURGH; Pseudohyperkalemia, familial, 1, due to red cell leak; Stomatocytosis II
 
Gene (location): PIEZO1 (16q24.3)
 
Monarch Initiative: MONDO:0008689
OMIM®: 194380

Clinical features

From HPO
Hemoglobinuria
MedGen UID:
6792
•Concept ID:
C0019048
•
Finding
The presence of free hemoglobin in the urine.
See: Feature record | Search on this feature
Cholelithiasis
MedGen UID:
3039
•Concept ID:
C0008350
•
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
See: Feature record | Search on this feature
Hepatitis
MedGen UID:
5515
•Concept ID:
C0019158
•
Disease or Syndrome
Inflammation of the liver.
See: Feature record | Search on this feature
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Reticulocytosis
MedGen UID:
60089
•Concept ID:
C0206160
•
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
See: Feature record | Search on this feature
Increased mean corpuscular hemoglobin concentration
MedGen UID:
605654
•Concept ID:
C0427444
•
Finding
An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).
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Increased red cell hemolysis by shear stress
MedGen UID:
812455
•Concept ID:
C3806125
•
Finding
See: Feature record | Search on this feature
Exercise-induced hemolysis
MedGen UID:
870728
•Concept ID:
C4025182
•
Disease or Syndrome
A form of hemolytic anemia that can be triggered by exertion.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Increased circulating ferritin concentration
MedGen UID:
69130
•Concept ID:
C0241013
•
Finding
Increased concentration of ferritin in the blood circulation.
See: Feature record | Search on this feature
Conjunctival icterus
MedGen UID:
537025
•Concept ID:
C0240962
•
Finding
Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.
See: Feature record | Search on this feature
Pallor
MedGen UID:
10547
•Concept ID:
C0030232
•
Finding
Abnormally pale skin.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine
N Engl J Med 2020 Oct 29;383(18):1746-1756. Epub 2020 Oct 7 doi: 10.1056/NEJMoa2023643. PMID: 33027564Free PMC Article
Fetal primary pleural effusions: Prenatal diagnosis and management.
Abbasi N, Ryan G
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:66-77. Epub 2019 Jan 12 doi: 10.1016/j.bpobgyn.2019.01.005. PMID: 30737016
Update in the Management of Patients with Preeclampsia.
Dhariwal NK, Lynde GC
Anesthesiol Clin 2017 Mar;35(1):95-106. Epub 2016 Dec 12 doi: 10.1016/j.anclin.2016.09.009. PMID: 28131123

Recent clinical studies

Etiology

Preeclampsia: A comprehensive review.
Ali M, Ahmed M, Memon M, Chandio F, Shaikh Q, Parveen A, Phull AR
Clin Chim Acta 2024 Sep 15;563:119922. Epub 2024 Aug 13 doi: 10.1016/j.cca.2024.119922. PMID: 39142550
Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.
Liang P, Zhang Y, Wan YCS, Ma S, Dong P, Lowry AJ, Francis SJ, Khandelwal S, Delahunty M, Telen MJ, Strouse JJ, Arepally GM, Yang H
Blood 2024 Jan 25;143(4):357-369. doi: 10.1182/blood.2023021465. PMID: 38033286Free PMC Article
Eclampsia in the 21st century.
Fishel Bartal M, Sibai BM
Am J Obstet Gynecol 2022 Feb;226(2S):S1237-S1253. Epub 2020 Sep 24 doi: 10.1016/j.ajog.2020.09.037. PMID: 32980358
Neonatal stroke.
Ramenghi LA, Bassi L, Fumagalli M, Ometto A, Groppo M, De Carli A, Pisoni S, Dessimone F, Farè P, Mosca F
Minerva Pediatr 2010 Jun;62(3 Suppl 1):177-9. PMID: 21089737
Congenital nephrotic syndrome.
Jalanko H
Pediatr Nephrol 2009 Nov;24(11):2121-8. Epub 2007 Oct 30 doi: 10.1007/s00467-007-0633-9. PMID: 17968594Free PMC Article

Diagnosis

Nonimmune Hydrops Fetalis.
Dunn SB, Whittington JR
Neoreviews 2024 Aug 1;25(8):e475-e485. doi: 10.1542/neo.25-8-e475. PMID: 39085173
Pseudohyperkalemia: Three Cases and a Review of Literature.
Saleh-Anaraki K, Jain A, Wilcox CS, Pourafshar N
Am J Med 2022 Jul;135(7):e150-e154. Epub 2022 Apr 8 doi: 10.1016/j.amjmed.2022.01.036. PMID: 35398330
Eclampsia in the 21st century.
Fishel Bartal M, Sibai BM
Am J Obstet Gynecol 2022 Feb;226(2S):S1237-S1253. Epub 2020 Sep 24 doi: 10.1016/j.ajog.2020.09.037. PMID: 32980358
Parvovirus b19 infection in pregnancy - A review.
Gigi CE, Anumba DOC
Eur J Obstet Gynecol Reprod Biol 2021 Sep;264:358-362. Epub 2021 Jul 28 doi: 10.1016/j.ejogrb.2021.07.046. PMID: 34391051
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine
N Engl J Med 2020 Oct 29;383(18):1746-1756. Epub 2020 Oct 7 doi: 10.1056/NEJMoa2023643. PMID: 33027564Free PMC Article

Therapy

Eclampsia in the 21st century.
Fishel Bartal M, Sibai BM
Am J Obstet Gynecol 2022 Feb;226(2S):S1237-S1253. Epub 2020 Sep 24 doi: 10.1016/j.ajog.2020.09.037. PMID: 32980358
Obstetrical forceps-induced Descemet membrane tears.
Agarwal R, Singh NK, Sinha R, Sharma N
Indian J Ophthalmol 2021 Dec;69(12):3432-3441. doi: 10.4103/ijo.IJO_863_21. PMID: 34826970Free PMC Article
Pseudohyperkalemia-Not Always Benign.
Valentine RM, Barkhuizen A, Roberts R, Ford C, Gama R
J Appl Lab Med 2019 May;3(6):1049-1053. Epub 2018 Jun 27 doi: 10.1373/jalm.2018.026336. PMID: 31639696
Congenital nephrotic syndrome.
Jalanko H
Pediatr Nephrol 2009 Nov;24(11):2121-8. Epub 2007 Oct 30 doi: 10.1007/s00467-007-0633-9. PMID: 17968594Free PMC Article
Hypothermic neuroprotection.
Gunn AJ, Thoresen M
NeuroRx 2006 Apr;3(2):154-69. doi: 10.1016/j.nurx.2006.01.007. PMID: 16554254Free PMC Article

Prognosis

Nonimmune Hydrops Fetalis.
Dunn SB, Whittington JR
Neoreviews 2024 Aug 1;25(8):e475-e485. doi: 10.1542/neo.25-8-e475. PMID: 39085173
Eclampsia in the 21st century.
Fishel Bartal M, Sibai BM
Am J Obstet Gynecol 2022 Feb;226(2S):S1237-S1253. Epub 2020 Sep 24 doi: 10.1016/j.ajog.2020.09.037. PMID: 32980358
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine
N Engl J Med 2020 Oct 29;383(18):1746-1756. Epub 2020 Oct 7 doi: 10.1056/NEJMoa2023643. PMID: 33027564Free PMC Article
Fetal intrapericardial teratomas.
Yuan SM, Lin H
Turk J Pediatr 2019;61(2):153-158. doi: 10.24953/turkjped.2019.02.001. PMID: 31951327
Neonatal stroke.
Ramenghi LA, Bassi L, Fumagalli M, Ometto A, Groppo M, De Carli A, Pisoni S, Dessimone F, Farè P, Mosca F
Minerva Pediatr 2010 Jun;62(3 Suppl 1):177-9. PMID: 21089737

Clinical prediction guides

HELLP syndrome at <23 weeks' gestation: a systematic literature review.
Mossayebi MH, Iyer NS, McLaren RA Jr, Moussa HN, Sibai BM, Al-Kouatly HB
Am J Obstet Gynecol 2023 Nov;229(5):502-515.e10. Epub 2023 May 5 doi: 10.1016/j.ajog.2023.04.046. PMID: 37150281
Eclampsia in the 21st century.
Fishel Bartal M, Sibai BM
Am J Obstet Gynecol 2022 Feb;226(2S):S1237-S1253. Epub 2020 Sep 24 doi: 10.1016/j.ajog.2020.09.037. PMID: 32980358
Fetal intrapericardial teratomas.
Yuan SM, Lin H
Turk J Pediatr 2019;61(2):153-158. doi: 10.24953/turkjped.2019.02.001. PMID: 31951327
Preeclampsia, of mice and women.
Sones JL, Davisson RL
Physiol Genomics 2016 Aug 1;48(8):565-72. Epub 2016 Jun 3 doi: 10.1152/physiolgenomics.00125.2015. PMID: 27260843Free PMC Article
Prediction of preeclampsia.
Myatt L, Miodovnik M
Semin Perinatol 1999 Feb;23(1):45-57. doi: 10.1016/s0146-0005(99)80059-7. PMID: 10102170

Recent systematic reviews

HELLP syndrome at <23 weeks' gestation: a systematic literature review.
Mossayebi MH, Iyer NS, McLaren RA Jr, Moussa HN, Sibai BM, Al-Kouatly HB
Am J Obstet Gynecol 2023 Nov;229(5):502-515.e10. Epub 2023 May 5 doi: 10.1016/j.ajog.2023.04.046. PMID: 37150281
Mother-to-child transmission of Chikungunya virus: A systematic review and meta-analysis.
Contopoulos-Ioannidis D, Newman-Lindsay S, Chow C, LaBeaud AD
PLoS Negl Trop Dis 2018 Jun;12(6):e0006510. Epub 2018 Jun 13 doi: 10.1371/journal.pntd.0006510. PMID: 29897898Free PMC Article
The influence of fluid management on outcomes in preeclampsia: a systematic review and meta-analysis.
Pretorius T, van Rensburg G, Dyer RA, Biccard BM
Int J Obstet Anesth 2018 May;34:85-95. Epub 2017 Dec 20 doi: 10.1016/j.ijoa.2017.12.004. PMID: 29398426
Intravenous or enteral loop diuretics for preterm infants with (or developing) chronic lung disease.
Stewart A, Brion LP
Cochrane Database Syst Rev 2011 Sep 7;2011(9):CD001453. doi: 10.1002/14651858.CD001453.pub2. PMID: 21901676Free PMC Article
Diuretics for preventing pre-eclampsia.
Churchill D, Beevers GD, Meher S, Rhodes C
Cochrane Database Syst Rev 2007 Jan 24;2007(1):CD004451. doi: 10.1002/14651858.CD004451.pub2. PMID: 17253507Free PMC Article

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      Clinical tests in GTR
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