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Exocrine pancreatic insufficiency

MedGen UID:
45295
Concept ID:
C0030293
Disease or Syndrome
Synonyms: Pancreatic insufficiency
SNOMED CT: Pancreatic insufficiency (37992001)
 
HPO: HP:0001738

Definition

Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. [from HPO]

Term Hierarchy

Conditions with this feature

Cystic fibrosis
MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of morbidity and mortality in CF. Meconium ileus occurs at birth in 15%-20% of newborns with CF. More than 95% of males with CF are infertile. Congenital absence of the vas deferens (CAVD) is generally identified during evaluation of infertility or as an incidental finding at the time of a surgical procedure. Hypoplasia or aplasia of the vas deferens and seminal vesicles may occur either bilaterally or unilaterally. Testicular development and function and spermatogenesis are usually normal.
Nephropathic cystinosis
MedGen UID:
1207
Concept ID:
C0010690
Disease or Syndrome
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.
Polyglandular autoimmune syndrome, type 2
MedGen UID:
39126
Concept ID:
C0085860
Disease or Syndrome
Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).
Johanson-Blizzard syndrome
MedGen UID:
59798
Concept ID:
C0175692
Congenital Abnormality
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Hereditary pancreatitis
MedGen UID:
116056
Concept ID:
C0238339
Disease or Syndrome
A disorder characterized by recurrent episodes of pancreatitis that start at a young age. It is caused by mutations in the PRSS1 or SPINK1 genes. Patients are at a high risk of developing pancreatic carcinoma.
Shwachman syndrome
MedGen UID:
124418
Concept ID:
C0272170
Disease or Syndrome
Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multi-lineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.
Familial hypoplastic, glomerulocystic kidney
MedGen UID:
96569
Concept ID:
C0431693
Congenital Abnormality
The 'renal cysts and diabetes syndrome' is an autosomal dominant disorder comprising (1) nondiabetic renal disease resulting from abnormal renal development, and (2) diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelvises, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract, including vaginal aplasia, rudimentary uterus, bicornuate uterus, epididymal cysts, and atresia of the vas deferens (Bingham et al., 2001; Fajans et al., 2001; Bellanne-Chantelot et al., 2004; Edghill et al., 2006). The renal abnormalities seen in the RCAD syndrome are part of a spectrum of malformations known as congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Nakayama et al., 2010).
Pancreatic insufficiency, combined exocrine
MedGen UID:
340462
Concept ID:
C1850081
Disease or Syndrome
Pancreatic agenesis, congenital
MedGen UID:
340466
Concept ID:
C1850096
Disease or Syndrome
Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.
Alagille syndrome 1
MedGen UID:
365434
Concept ID:
C1956125
Congenital Abnormality
Alagille syndrome (ALGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The clinical features are highly variable, even within families. The major clinical manifestations of ALGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths.
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
MedGen UID:
436369
Concept ID:
C2675184
Disease or Syndrome
Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
MedGen UID:
812585
Concept ID:
C3806255
Disease or Syndrome

Recent clinical studies

Etiology

Whitcomb DC, Bodhani A, Beckmann K, Sander-Struckmeier S, Liu S, Fuldeore M, Pollack PF, Khurmi RP
Pancreas 2016 May-Jun;45(5):679-86. doi: 10.1097/MPA.0000000000000514. PMID: 26495784
Terzin V, Várkonyi T, Szabolcs A, Lengyel C, Takács T, Zsóri G, Stájer A, Palkó A, Wittmann T, Pálinkás A, Czakó L
Pancreatology 2014 Sep-Oct;14(5):356-60. Epub 2014 Jul 29 doi: 10.1016/j.pan.2014.07.004. PMID: 25278304
Aoufi Rabih S, García Agudo R, Legaz Huidobro ML, Ynfante Ferrús M, González Carro P, Pérez Roldán F, Ruiz Carrillo F, Tenías Burillo JM
Pancreas 2014 Jul;43(5):730-4. doi: 10.1097/MPA.0000000000000085. PMID: 24713840
Pezzilli R, Andriulli A, Bassi C, Balzano G, Cantore M, Delle Fave G, Falconi M; Exocrine Pancreatic Insufficiency collaborative (EPIc) Group.
World J Gastroenterol 2013 Nov 28;19(44):7930-46. doi: 10.3748/wjg.v19.i44.7930. PMID: 24307787Free PMC Article
Huddy JR, Macharg FM, Lawn AM, Preston SR
Dis Esophagus 2013 Aug;26(6):594-7. Epub 2012 Nov 30 doi: 10.1111/dote.12004. PMID: 23199208

Diagnosis

Pezzilli R
Panminerva Med 2016 Dec;58(4):245-252. Epub 2016 Jun 16 PMID: 27309260
Terzin V, Várkonyi T, Szabolcs A, Lengyel C, Takács T, Zsóri G, Stájer A, Palkó A, Wittmann T, Pálinkás A, Czakó L
Pancreatology 2014 Sep-Oct;14(5):356-60. Epub 2014 Jul 29 doi: 10.1016/j.pan.2014.07.004. PMID: 25278304
Aoufi Rabih S, García Agudo R, Legaz Huidobro ML, Ynfante Ferrús M, González Carro P, Pérez Roldán F, Ruiz Carrillo F, Tenías Burillo JM
Pancreas 2014 Jul;43(5):730-4. doi: 10.1097/MPA.0000000000000085. PMID: 24713840
Pezzilli R, Andriulli A, Bassi C, Balzano G, Cantore M, Delle Fave G, Falconi M; Exocrine Pancreatic Insufficiency collaborative (EPIc) Group.
World J Gastroenterol 2013 Nov 28;19(44):7930-46. doi: 10.3748/wjg.v19.i44.7930. PMID: 24307787Free PMC Article
Huddy JR, Macharg FM, Lawn AM, Preston SR
Dis Esophagus 2013 Aug;26(6):594-7. Epub 2012 Nov 30 doi: 10.1111/dote.12004. PMID: 23199208

Therapy

Hart PA, Conwell DL
Pancreas 2016 Jan;45(1):1-4. doi: 10.1097/MPA.0000000000000457. PMID: 26658035
Whitcomb DC, Bodhani A, Beckmann K, Sander-Struckmeier S, Liu S, Fuldeore M, Pollack PF, Khurmi RP
Pancreas 2016 May-Jun;45(5):679-86. doi: 10.1097/MPA.0000000000000514. PMID: 26495784
Kashirskaya NY, Kapranov NI, Sander-Struckmeier S, Kovalev V
J Cyst Fibros 2015 Mar;14(2):275-81. Epub 2014 Jul 25 doi: 10.1016/j.jcf.2014.07.006. PMID: 25066363
Pezzilli R, Andriulli A, Bassi C, Balzano G, Cantore M, Delle Fave G, Falconi M; Exocrine Pancreatic Insufficiency collaborative (EPIc) Group.
World J Gastroenterol 2013 Nov 28;19(44):7930-46. doi: 10.3748/wjg.v19.i44.7930. PMID: 24307787Free PMC Article
Huddy JR, Macharg FM, Lawn AM, Preston SR
Dis Esophagus 2013 Aug;26(6):594-7. Epub 2012 Nov 30 doi: 10.1111/dote.12004. PMID: 23199208

Prognosis

Hart PA, Conwell DL
Pancreas 2016 Jan;45(1):1-4. doi: 10.1097/MPA.0000000000000457. PMID: 26658035
Terzin V, Várkonyi T, Szabolcs A, Lengyel C, Takács T, Zsóri G, Stájer A, Palkó A, Wittmann T, Pálinkás A, Czakó L
Pancreatology 2014 Sep-Oct;14(5):356-60. Epub 2014 Jul 29 doi: 10.1016/j.pan.2014.07.004. PMID: 25278304
Pezzilli R, Andriulli A, Bassi C, Balzano G, Cantore M, Delle Fave G, Falconi M; Exocrine Pancreatic Insufficiency collaborative (EPIc) Group.
World J Gastroenterol 2013 Nov 28;19(44):7930-46. doi: 10.3748/wjg.v19.i44.7930. PMID: 24307787Free PMC Article
Huddy JR, Macharg FM, Lawn AM, Preston SR
Dis Esophagus 2013 Aug;26(6):594-7. Epub 2012 Nov 30 doi: 10.1111/dote.12004. PMID: 23199208
Nakamura H, Murakami Y, Uemura K, Hayashidani Y, Sudo T, Ohge H, Sueda T
J Surg Res 2011 Dec;171(2):473-8. Epub 2010 Apr 18 doi: 10.1016/j.jss.2010.03.052. PMID: 20605585

Clinical prediction guides

Hart PA, Conwell DL
Pancreas 2016 Jan;45(1):1-4. doi: 10.1097/MPA.0000000000000457. PMID: 26658035
Kashirskaya NY, Kapranov NI, Sander-Struckmeier S, Kovalev V
J Cyst Fibros 2015 Mar;14(2):275-81. Epub 2014 Jul 25 doi: 10.1016/j.jcf.2014.07.006. PMID: 25066363
Aoufi Rabih S, García Agudo R, Legaz Huidobro ML, Ynfante Ferrús M, González Carro P, Pérez Roldán F, Ruiz Carrillo F, Tenías Burillo JM
Pancreas 2014 Jul;43(5):730-4. doi: 10.1097/MPA.0000000000000085. PMID: 24713840
Pezzilli R, Andriulli A, Bassi C, Balzano G, Cantore M, Delle Fave G, Falconi M; Exocrine Pancreatic Insufficiency collaborative (EPIc) Group.
World J Gastroenterol 2013 Nov 28;19(44):7930-46. doi: 10.3748/wjg.v19.i44.7930. PMID: 24307787Free PMC Article
Huddy JR, Macharg FM, Lawn AM, Preston SR
Dis Esophagus 2013 Aug;26(6):594-7. Epub 2012 Nov 30 doi: 10.1111/dote.12004. PMID: 23199208

Recent systematic reviews

Tseng DS, Molenaar IQ, Besselink MG, van Eijck CH, Borel Rinkes IH, van Santvoort HC
Pancreas 2016 Mar;45(3):325-30. doi: 10.1097/MPA.0000000000000473. PMID: 26495777
Gheorghe C, Seicean A, Saftoiu A, Tantau M, Dumitru E, Jinga M, Negreanu L, Mateescu B, Gheorghe L, Ciocirlan M, Cijevschi C, Constantinescu G, Dima S, Diculescu M; Romanian Association for Pancreatic Pathology.
J Gastrointestin Liver Dis 2015 Mar;24(1):117-23. PMID: 25822444
Das SL, Kennedy JI, Murphy R, Phillips AR, Windsor JA, Petrov MS
World J Gastroenterol 2014 Dec 7;20(45):17196-205. doi: 10.3748/wjg.v20.i45.17196. PMID: 25493036Free PMC Article
Pezzilli R, Andriulli A, Bassi C, Balzano G, Cantore M, Delle Fave G, Falconi M; Exocrine Pancreatic Insufficiency collaborative (EPIc) Group.
World J Gastroenterol 2013 Nov 28;19(44):7930-46. doi: 10.3748/wjg.v19.i44.7930. PMID: 24307787Free PMC Article
Taylor JR, Gardner TB, Waljee AK, Dimagno MJ, Schoenfeld PS
Aliment Pharmacol Ther 2010 Jan;31(1):57-72. doi: 10.1111/j.1365-2036.2009.04157.x. PMID: 19804466

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