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Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.

ABSTRACT: BACKGROUND:Hereditary diffuse gastric cancer is a rare condition that accounts for approximately 1-3% of all gastric cancer cases. Due to its rapid and invasive growth pattern, it is associated with a very poor prognosis. As a result, comprehensive genetic testing is imperative in patients who meet the current testing criteria in order to identify relatives at risk. This case report illustrates the substantial benefit of genetic testing in the family of a patient diagnosed with hereditary diffuse gastric cancer. CASE PRESENTATION:A 37-year-old patient was admitted to the emergency department with acute abdominal pain. Following explorative laparoscopy, locally advanced diffuse gastric cancer was diagnosed. The indication for genetic testing of CDH1 was given due to the patient's young age. A germline mutation in CDH1 was identified in the index patient. As a result, several family members underwent genetic testing. The patient's father, brother and one aunt were identified as carriers of the familial CDH1 mutation and subsequently received gastrectomy. In both the father and the aunt, histology of the surgical specimen revealed a diffuse growing adenocarcinoma after an unremarkable preoperative gastroscopy. CONCLUSION:Awareness and recognition of a potential hereditary diffuse gastric cancer can provide a substantial health benefit not only for the patient but especially for affected family members.

SUBMITTER: Niemeyer E

PROVIDER: S-EPMC7197118 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.

Niemeyer Elisabeth E Mofid Hamid H Zornig Carsten C Burandt Eike-Christian EC Stein Alexander A Block Andreas A Volk Alexander E AE

BMC gastroenterology 20200503 1

<h4>Background</h4>Hereditary diffuse gastric cancer is a rare condition that accounts for approximately 1-3% of all gastric cancer cases. Due to its rapid and invasive growth pattern, it is associated with a very poor prognosis. As a result, comprehensive genetic testing is imperative in patients who meet the current testing criteria in order to identify relatives at risk. This case report illustrates the substantial benefit of genetic testing in the family of a patient diagnosed with hereditar ...[more]

PMID: 32362280

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Project description:BackgroundThis report introduces an unusual cause of kidney failure in a previously healthy pediatric patient. She developed thrombotic microangiopathy (TMA) that was diagnosed post-partum, requiring dialysis and eculizumab, with eventual recovery of kidney function ([chronic kidney disease (CKD) stage 3].Case presentationThe patient was induced at term due to preeclampsia, with delivery complicated by severe postpartum hemorrhage from uterine atony. She continued to have severe hypertension post-delivery and further developed acute kidney injury (AKI) with decreased urinary output and respiratory distress requiring dialysis therapy. Labs revealed hemolysis with elevated lactate dehydrogenase, low haptoglobin, anemia, and thrombocytopenia, but otherwise unremarkable immunology labs. Once clinically stabilized the patient underwent kidney biopsy, which was consistent with TMA. Treatment was initiated with eculizumab, a monoclonal antibody for terminal complement blockade. Her clinical status improved (including markers of hemolysis and inflammation) with kidney replacement therapy and complement blockade. On discharge, she had increasing urine output and was prescribed 3 day per week hemodialysis and twice monthly eculizumab infusions. By 6 weeks post-delivery, hemodialysis was discontinued and her eculizumab was weaned to monthly infusions. Eculizumab was discontinued at 12 months postpartum. Genetic testing for mutations of the complement system was negative. The patient has residual stage 3 CKD with stable kidney function, requiring two agents for blood pressure control, including an ACE inhibitor for antiproteinuric effect.ConclusionsThis case report showcases an unusual cause of renal failure in a pediatric patient due to TMA in the post-partum period. She required intermittent hemodialysis (iHD) for a brief period, however she was treated successfully with eculizumab that was able to be weaned off 1 year after delivery. She has residual stage 3 CKD and no further signs or symptoms of TMA.

Dataset Information

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.

Publications

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.

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