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Pigment gallstones

MedGen UID:
480495
Concept ID:
C3278865
Finding
HPO: HP:0011981

Definition

Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. [from HPO]

Conditions with this feature

Hemolytic anemia due to glucophosphate isomerase deficiency
MedGen UID:
462080
Concept ID:
C3150730
Disease or Syndrome
Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.\n\nHemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.\n\nA small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).

Professional guidelines

PubMed

Sharma B, Sharma SR
Postgrad Med 2023 Apr;135(3):296-311. Epub 2022 Nov 6 doi: 10.1080/00325481.2022.2139973. PMID: 36317754
Miranda Cona M, Liu YW, Hubert A, Yin T, Feng YB, de Witte P, Waelkens E, Jiang YS, Zhang J, Mulier S, Xia Q, Huang G, Oyen R, Ni YC
World J Gastroenterol 2016 Aug 7;22(29):6690-705. doi: 10.3748/wjg.v22.i29.6690. PMID: 27547012Free PMC Article

Recent clinical studies

Etiology

Acalovschi M
World J Gastroenterol 2014 Jun 21;20(23):7277-85. doi: 10.3748/wjg.v20.i23.7277. PMID: 24966598Free PMC Article
Wasmuth HE, Keppeler H, Herrmann U, Schirin-Sokhan R, Barker M, Lammert F
Hepatology 2006 Apr;43(4):738-41. doi: 10.1002/hep.21105. PMID: 16557566
Schirmer BD, Winters KL, Edlich RF
J Long Term Eff Med Implants 2005;15(3):329-38. doi: 10.1615/jlongtermeffmedimplants.v15.i3.90. PMID: 16022643
Hendricks-Ferguson V, Nelson MA
AORN J 2003 Jun;77(6):1170-8, 1181-2; quiz 1185-8. PMID: 12817741
Soloway RD, Trotman BW, Ostrow JD
Gastroenterology 1977 Jan;72(1):167-82. PMID: 318581

Diagnosis

Acalovschi M
World J Gastroenterol 2014 Jun 21;20(23):7277-85. doi: 10.3748/wjg.v20.i23.7277. PMID: 24966598Free PMC Article
Schirmer BD, Winters KL, Edlich RF
J Long Term Eff Med Implants 2005;15(3):329-38. doi: 10.1615/jlongtermeffmedimplants.v15.i3.90. PMID: 16022643
Lee SP
Hepatology 1990 Sep;12(3 Pt 2):200S-203S; discussion 203S-205S. PMID: 2210650
Dolgin SM, Schwartz JS, Kressel HY, Soloway RD, Miller WT, Trotman BW, Soloway AS, Good LI
N Engl J Med 1981 Apr 2;304(14):808-11. doi: 10.1056/NEJM198104023041402. PMID: 7207510
O'Donnell B, Puri P
Prog Pediatr Surg 1977;10:121-7. PMID: 866668

Therapy

Wan Z, Bai X, He C, Zhang Y, Wang Y, Shen K, Meizi L, Wang Q, Dongsheng W, Feng Y, Yang A
Ann Med 2023 Dec;55(1):2203514. doi: 10.1080/07853890.2023.2203514. PMID: 37141158Free PMC Article
Cariati A, Piromalli E
Expert Opin Pharmacother 2012 Jun;13(9):1223-7. doi: 10.1517/14656566.2012.685161. PMID: 22607008
Hendricks-Ferguson V, Nelson MA
AORN J 2003 Jun;77(6):1170-8, 1181-2; quiz 1185-8. PMID: 12817741
Ko CW, Murakami C, Sekijima JH, Kim MH, McDonald GB, Lee SP
Am J Gastroenterol 1996 Jun;91(6):1207-10. PMID: 8651172
Leuschner U, Güldütuna S, Hellstern A
Dig Dis 1991;9(5):282-93. doi: 10.1159/000171312. PMID: 1752067

Prognosis

Acalovschi M
World J Gastroenterol 2014 Jun 21;20(23):7277-85. doi: 10.3748/wjg.v20.i23.7277. PMID: 24966598Free PMC Article
Schirmer BD, Winters KL, Edlich RF
J Long Term Eff Med Implants 2005;15(3):329-38. doi: 10.1615/jlongtermeffmedimplants.v15.i3.90. PMID: 16022643
Rege RV, Webster CC, Ostrow JD
J Lipid Res 1987 Jun;28(6):673-83. PMID: 3611970
Dolgin SM, Schwartz JS, Kressel HY, Soloway RD, Miller WT, Trotman BW, Soloway AS, Good LI
N Engl J Med 1981 Apr 2;304(14):808-11. doi: 10.1056/NEJM198104023041402. PMID: 7207510
O'Donnell B, Puri P
Prog Pediatr Surg 1977;10:121-7. PMID: 866668

Clinical prediction guides

Wang HH, Portincasa P, Wang DQ
Curr Med Chem 2019;26(19):3407-3423. doi: 10.2174/0929867324666170619104801. PMID: 28625150Free PMC Article
Acalovschi M
World J Gastroenterol 2014 Jun 21;20(23):7277-85. doi: 10.3748/wjg.v20.i23.7277. PMID: 24966598Free PMC Article
Schirmer BD, Winters KL, Edlich RF
J Long Term Eff Med Implants 2005;15(3):329-38. doi: 10.1615/jlongtermeffmedimplants.v15.i3.90. PMID: 16022643
Vitetta L, Sali A, Moritz V, Shaw A, Carson P, Little P, Elzarka A
Aust N Z J Surg 1989 Jul;59(7):571-7. doi: 10.1111/j.1445-2197.1989.tb01633.x. PMID: 2546527
Rege RV, Webster CC, Ostrow JD
J Lipid Res 1987 Jun;28(6):673-83. PMID: 3611970

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