Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report.

BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a progressive chronic disease that is inherited in an autosomal dominant fashion. Symptoms include hyperuricemia, gout, interstitial nephritis, renal cysts, and progressive renal damage that can lead to end-stage renal disease. Mutations in the uromodulin gene (UMOD) characterize the ADTKD-UMOD clinical subtype of this disease. To date, > 100 UMOD mutations have been identified. Early diagnosis of ADTKD-UMOD is important to treat the disease, slow down disease progression, and facilitate the identification of potentially affected family members. CASE SUMMARY: We report a 40-year-old man harboring a novel heterozygous missense mutation in UMOD (c.554G>T; p. Arg185Leu). The patient had hyperuricemia, gout, and chronic kidney disease. The same mutation was detected in his daughter, aunt and cousin. CONCLUSION: A single nucleotide substitution in exon 3 of UMOD was responsible for the heterozygous missense mutation (c.554G>T, p.Arg185Leu).

Abdominal hemorrhage after peritoneal dialysis catheter insertion: A rare cause of luteal rupture: A case report.

BACKGROUND: Abdominal hemorrhage is a complication of peritoneal dialysis catheter (PDC) insertion that cannot be neglected, and its causes are mainly related to surgical injury. This article reports a case of massive abdominal hemorrhage that was caused by a rare rupture of corpus luteum shortly after PDC during the initiation of peritoneal dialysis (PD) insertion. CASE SUMMARY: A 37-year-old woman was surgically placed a Tenckhoff catheter because of end-stage renal disease. On the third postoperative day, the color of the abdominal drainage fluid was pink, and deepened gradually. It turned pale after initiating conservative treatment. On the tenth postoperative day, the color of the abdominal drainage fluid suddenly turned dark red, and the color progressively deepened. The patient's hemoglobin dropped from 88 g/L to 57 g/L. Abdominal computed tomography (CT) indicated abdominal effusion and a high-density shadow in the abdominal cavity. The surgeon performed a laparotomy and found that the corpus luteum had ruptured on the right side and a left ovarian blood body had formed. The gynecologist repaired the ovary and performed a bilateral oophoroplasty. After the operation, the patient stopped bleeding and hemodialysis was temporarily stopped. PD was resumed after half a month. The patient's condition improved, and she was discharged 14 d after the laparotomy. CONCLUSION: If abdominal hemorrhage occurs in women of childbearing age after PDC insertion, luteal rupture should be considered as the cause.