Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report.

ABSTRACT:

Rationale

Steroid-resistant nephrotic syndrome (SRNS) is a special kidney disease. SRNS is characterized by steroid-resistant, clinical variability, and genetic heterogeneity. Patients with SRNS often may eventually need renal transplantation.

Patient concerns

A 10-month-old Chinese male infant presented with oliguria, renal dysfunction, hypertension, and anemia.

Diagnoses

Combined with clinical manifestations, laboratory testing and sequencing results, the patient was diagnosed as SRNS.

Interventions

Combined intravenous methylprednisolone and cefoperazone sulbactam did not improve the patient's condition. Thus, SRNS associated with hereditary nephrotic syndrome was strongly suspected. Genetic testing for hereditary renal disease of the patient revealed 2 nove

SUBMITTER: Zhao B 

PROVIDER: S-EPMC7886470 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature