title: Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment.
abstract: We report a successful case of pregnancy in a female patient with congenital chloride diarrhea (CLD) and reduced renal function due to interruption of treatment. CLD is an autosomal recessive disorder of intestinal electrolyte absorption caused by mutations in the solute carrier family 26, member 3 (SLC26A3) gene, and continuous production of watery diarrhea induces dehydration, metabolic alkalosis and many kinds of electrolyte disturbances in CLD patients. The patient in our case was a 24-year-old female CLD patient with moderate renal impairment; a renal biopsy specimen showed minimal glomerular changes, but tubulointerstitial damage by crystal formation, consistent with renal function data. One year after our initial examination and reinstitution of therapy, the patient got married and soon conceived. There were no major problems during the course of pregnancy, and the patient successfully delivered a healthy full-term infant vaginally. The symptoms and clinical course of the patient were particularly mild, and we discuss possible reasons for these observations from a perspective of genotype, phenotype and environmental conditions.
authors.affiliation: Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan. yosimizu@juntendo.ac.jp
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Shimizu
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kamoda
authors.forename: Michio
authors.initials: M
authors.lastname: Nagata
authors.forename: Keigyo
authors.initials: K
authors.lastname: Yoh
authors.forename: Yuko
authors.initials: Y
authors.lastname: Hashimoto
authors.forename: Akira
authors.initials: A
authors.lastname: Matsui
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yamagata
authors.forename: Akio
authors.initials: A
authors.lastname: Koyama
mesh_terms: D017920:Antiporters / Q000235:genetics* / Q000378:metabolism; D001706:Biopsy; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides / Q000378:metabolism*; D003967:Diarrhea / Q000151:congenital* / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D050498:Live Birth; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D017920:Antiporters; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters