congenital and genetic chronic diarrhea · • newborn baby with watery diarrhea after the start of...
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Congenital and Genetic chronic Diarrhea
Michael J. LentzeChildren‘s Hospital Medical CenterUniversity Hospitals Bonn/Germany
andGivi Zhvania Academic Clinic of Pediatry
Tbilisi/ Georgia
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Definition of acute and chronicDiarrhea
Acute: up to 5(7) Days
Chronic (Persistent): longer than2 weeks
Prolonged: longer than 5(7) days
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Classification of Chronic Diarrhea
1. Infectious: Cryptosporidium, Giardia, Entamoeba, Schistosoma, HIV
2. Chronic bloody diarrhea: IBD (Crohn‘s, UlcerativeColitis, Indeterminate colitis) Polyposis, TB
3. Functional: Irritable bowel syndrome, Toddler‘s diarrhea3. Genetic chronic diarrhea with accompanying
symptoms: Coeliac disease, CF, Shwachman, Acrodermatitis enteropathica, early onset IBD,
4. Congenital: Osmotic / secretory Diarrhea, structuralDefects, immune dysregulation,enteroendocrine dysregulation
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Differential Diagnosis of chronic Diarrhoeaccording to the Age of Onset
• Congenital: since birth
• Acquired: after a healthy period start with Diarrhea
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Defects in digestion and absorptionof nutrients and electrolytesChronic osmotic or secretorydiarrhoea from defects of transportersor enzymes
Defects in enterocyte structureChronic secretory/osmotic diarrhoeaDerives from cytoskeletondysregulation with alterations in enterocyte structure and function
Defects in intestinal immune-relatedhomeostasisChronic secretory diarrhoea derivesfrom immune dysregulation withinflammation and mucosal damage
Defects in enterendocrine celldifferentiationChronic osmotic diarrhoea derivesfrom enteroendocrine dysgenesis dueto defects in the stem celldifferentiation process
Classificationof CongenitalDiarrheas
Canini B et al. Nat Rev Gastroenterol Hepatol2015, doi 10.1038
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Congenital Osmotic Diarrhea• Glucose-Galactose-Malabsorption• Sucrase-Isomaltase-Deficiency• Maltase-Glucoamylase Deficiency• Adult type hypolactasia• Congenital “Lactase-Deficiency” (very rare)• Fructose-Malabsorption (No mutation of GLUT5)• All have in common: diarrhea stops when n.p.o. is
given and by elimination of responsible sugars or bymixture with other sugars respectively
• Diagnosis: H-2 breath test with the suspected sugar
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Clinical Use of H2-Breath Tests
Ghoshal UC J Neurogastroenterol Motil 17: 312-17, 2011
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SGLT 1 GLUT 5
GLUT 2
Na+-K+-ATPase
GlucNa+
Na+
K+
Fructose
?
?
Glucose Transporter Family in Intestinal Epithelium
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Mutation in SGLT 1Wright E JCI 88: 1435,1991
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• Newborn baby withwatery diarrhea after the start of feeding with breast milk
•N.p.o: stop of diarrhea
•Change to carbohydrate freefeeding: normal stools
•Addition of breast milk:watery stools
•Diagnosis: congenital osmoticDiarrhea
•Investigation: Glucose H2-Breath test: negative (H2-Nonproducer!) Mutation analysis: Mutation in theSGLT1Glucose-Galactose-MalabsorptionThrives normaly with fructose-containing infant formula
Photo at 5 months of age
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2 Siblings mit Glu-Gal-Malabsorption, 16 and 18 Years old
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Investigation in Osmotic Diarrhea
Stop Feeding
H2-Breath test with suspected Carbohydrate
Elimination of CH: CH-free Formula
If success: molecular genetic test orEnzyme determination in intestinal mucosa
If diarrhea persists change to completelyhydrolysed formula or AA-formulaEliminate Enterokinase-Deficiency
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Congenital SecretoryDiarrhea
Critical parameters: Na+, K+ and Cl- in stool
• Cl- > Na+ + K+ = congenital chloridediarrhea
• Na+ > Cl- + K+ = congenital sodiumdiarrhea
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Congenital Chloride Diarrhea
• Autosomal recessive defect of the DRA-chloridetransporter (exchanges Na+/HCO3
-),which is located in the neighbourhood of CFTR (chromosome 7q22-q31)
• Symptoms: polyhydramnios, intrauterine diarrhea withfluid filled bowel loops. Postnataly profuse waterydiarrhea with severe hypochloremia
• Therapy: orale substitution of NaCl und KCl (high doses required, usually grams)
• Prognosis: good after a period of TPN
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Congenital Sodium Diarrhea
• Autosomal recessive defect of the Na+/H+
transporter Mutation im SPINT2 Gen (Heinz-Ehrian P et al. Am J Hum Genet 84:188-96, 2009)
• Symptoms: polyhydramnios, intrauterine diarrhea with fluid filled bowel loops. Postnatalyprofuse watery diarrhea and severehyponatremia (DD: AGS with salt loss!)
• Therapy: oral substitution of sodium citrate and glucose-electrolyte solution, TPN
• Prognosis: good (?) with persistant secretorydiarrhea
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Syndromic Congenital Na+-DiarrhoeSPINT2 Mutation
Heinz-Ehrian P et al. Am J Human Genet 84: 188-96, 2009
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Fetal Sonography of Adomen
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Congenital mixed Secretory/OsmoticDiarrhea = Structural Defect of Enterocyte
leading to Intestinal Failure
Typical symptoms: diarrhea despite n.p.o. and worsened diarrhea after feeding, metabolic acidosis
• Congenitale microvillous atrophy (myoglobin-2-deficiency, syntaxin-3 deficiency)
• Tufting enteropathy• IPEX-Syndrome (Immune dysregulation,
Polyendocrinopathy, Enteropathy, X-linked)• Anendocrinosis: lack of enteroendocrine cellsDiagnosis: Small bowel biopsy with PAS-staining,
Electron Microscopy, FOXP3 mutation
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Yesil, B. 2 years, Chronic diarrheasince birth
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EM: Microvillus Atrophy
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Congenital Microvillus Inclusion Disease(MVID)
Van der Velde KJ et al. Human Mutation 34(12): 1597-1605, 2013
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Van der Velde KJ et al. Human Mutation 34(12): 1597-1605, 2013
Congenital Microvillus Inclusion DiseaseMyosin Vb
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MVID – Syntaxin 3 Mutation
Wiegerinck CL et al. Gastroenterology 147:65-68,2014
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Congenital Tufting EnteropathyEpCAM oder SPINT2 - Mutation
Sivagnanam M et al. Gastroenterology 135: 429-37, 2008Sivagnanam M et al. Clin Dysmorphol 19: 48, 2010
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Tufting Enteropathy in a 1 year old Boy from Tbilisi
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IPEX-Syndrome
• Severe enteropathy
• Diabetes mellitus• Severe Eczema
• Endocrinopathies (Thyreoiditis)• Renal involvement
(Glomerulonephritis, Tubulopathy)
• Responsible Gene: FOXP3• Treatment: Sirolimus (0,15 mg /kg /d)
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Wang J et al. 2006, 355:270-80
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Tricho-Hepato-Enteric Syndrome
-Hair anomalies: sparse, fragile, and uncombable hair-Hepatopathy: liver cirrhosis-Intractable diarrhea since birth with villous atrophy-Molecular defect: SKIV2L (40%), TTC37 (60%)
Fabre A et al. Orphanet J Rare Dis 2013, doi 1186/1750
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Congenital Defect of Zinc Transporter: Acrodermatitis enteropathica
• Autosomal recessive intestinal malabsorption of zinc
• Symptoms: epidermal desquamations witherythrodermia at mouth, feet, genito-anal region, loss of hair, paronychia and chronic diarrhea
• Diagnosis: severely decreased plasma level of zinc (< 6 mmol/l)
• Therapy: oral administration of zinc (2 mg/kg/day) as zinc aspartate
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Acrodermatitis Enteropathica
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Acrodermatitis Enteropathica (2)
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Upper GI-Series of Congenital Short bowel
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2 Children 10 years old
The little boy suffers fromShort bowel syndrome afteroperation of volvulus during theNeonatal period.Despite Bianchi-proceduresevere failure to thrive.Mother not able to help withhome TPN
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Origine of Intestinal Failure
• Majority: Short bowel syndrome– Congenital atresias, gastroschisis, volvulus,
NEC
• Minority: nonfunctional intestinal tract– Intestinal pseudoobstruction, congenital
diseases of enterocyte development, auto-immune enteropathy, microvillous inclusiondisease, tufting enteropathy
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Natural History of „Adaptation“ in Short BowelSyndrome
10 years 19 years
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Chronic Diarrhea with Steatorrhea
Diagnosis Diagnostic TestCystic Fibrosis: Sweat testShwachman-Syndrome: Blood count, Elastase i. stoolLipase-Deficiency Lipase in duodenal juiceColipase-Deficiency Colipase in duodenal juiceCongenitale Lymphangiectasia Small intestinal biopsyAbetalipoproteinemia Beta-Lipoprotein in serum
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IBD in Infants: Mutations in IL-10 Receptor
Glocker EO et al NEJM 361: 2033-45, 2009
Ileostomy Ulcers and Abscess
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IBD in Infants: Mutations in IL-10 Receptor
Glocker EO et al NEJM 361: 2033-45, 2009
Intramural MicroabscessesSuperficial LymphoplamocyticInfiltration
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IL-10 Receptor Mutation in IBD
IL-10 Receptor
Cyktor JC et al Infect Immun 2011, May
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Successful Bone Marrow Transplantation in IL-10 Receptor Mutation
Before BMT After BMT
Glocker EO et al NEJM 361: 2033-45, 2009
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Protein loosing Enteropathy
• Congenital Lymphangiectasia• CDG-Syndrom Typ Ib: Mannose-Phosphate-
Isomerase-Deficiency (Isoelectric Focussing of Transferrins) Bloody stools!!
• Autoimmune-Enteropathy (Anti-gut-Antibodies)• After Fontan-Operation• Constrictive Pericarditis
Identical in all forms: Protein in stool increased(α-1-Antitrypsin or total protein) Total protein and Immunglobulins in plasmadecreased:
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“Key Questions“ in Congenital Diarrhea
After history and clinical examination thefollowing questions are helpful for diagnosis:
1. Is it an osmotic or a secretory Diarrhea?2. Structural defect of the Mucosa?
3. Additional symptoms: dysmorphism, hairanomalies, blood, mucus, fat in stool, hepatopathy?
4. Extraintestinal symptoms: Eczema? Immunodeficiency? Diabetes mellitus? Renalproblems?
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Algorithm for Diagnostic Workup of congenitalDiarrhea
Osmotic Diarrhea Secretory Diarrhea
Stop Feeding
Osmotic/SecretoryDiarrhea = Structural defect
H2- Breath Test
CH-free Formula
Molecular genetics orEnzyme activities
AA-Formula
Electrolytes i. Stool
Therapy with Electrolyterich nutrition
Molecular geneticsMYO5B, SPINT2EpCAM, FOXP3
Intestinal biopsy
Additional tests:Zn, Abetalipoprotein,AT3, Immune status
If not successful
Microscopy, PAS-staining, EM
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Thank you very much for your Attention