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Congenital secretory sodium diarrhea 8(CSD; DIAR8)

MedGen UID:
1783137
Concept ID:
C5441928
Disease or Syndrome
Synonyms: CSD; DIAR8; DIARRHEA 8, SECRETORY SODIUM, CONGENITAL; DIARRHEA, CONGENITAL SODIUM
 
Gene (location): SLC9A3 (5p15.33)
 
Monarch Initiative: MONDO:0014808
OMIM®: 616868

Definition

Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene. [from MONDO]

Clinical features

From HPO
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Secretory diarrhea
MedGen UID:
75635
Concept ID:
C0267557
Disease or Syndrome
Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
Ileal ulcer
MedGen UID:
99248
Concept ID:
C0520564
Disease or Syndrome
An erosion of the mucous membrane in a portion of the ileum.
Villous atrophy
MedGen UID:
154306
Concept ID:
C0554101
Finding
The enteric villi are atrophic or absent.
Inflammation of the large intestine
MedGen UID:
662273
Concept ID:
C0578878
Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
Elevated fecal sodium
MedGen UID:
1695106
Concept ID:
C5139375
Finding
An elevated concentration of sodium in feces.
Reduced fecal osmolality
MedGen UID:
1685299
Concept ID:
C5139378
Finding
Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.
Elevated fecal pH
MedGen UID:
1703251
Concept ID:
C5139651
Finding
Abnormally high fecal pH, i.e., abnormal alkalinity of feces.
Dependency on parenteral nutrition
MedGen UID:
1814107
Concept ID:
C5558370
Finding
Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.
Elevated stool chloride content
MedGen UID:
1841802
Concept ID:
C5826416
Finding
Elevated amount of chloride in the stool.
Abnormal blood sodium concentration
MedGen UID:
869221
Concept ID:
C4023644
Finding
An abnormal concentration of sodium.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.

Recent clinical studies

Diagnosis

Al Makadma AS, Al-Akash SI, Al Dalaan I, Al Turaiki M, Shabib SM
Pediatr Nephrol 2004 Aug;19(8):905-7. Epub 2004 Jun 4 doi: 10.1007/s00467-004-1523-z. PMID: 15179572

Therapy

Singer-Granick C, Hill ID, Rolston RK
J Pediatr Endocrinol Metab 1995 Oct-Dec;8(4):275-80. doi: 10.1515/jpem.1995.8.4.275. PMID: 8821905

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