INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report
We examined a 68-year-old woman with decreased renal function (serum creatinine level of 1.77 mg/dL) and polycystic kidney disease. Magnetic resonance imaging revealed multiple bilateral renal cysts with uniform low intensity on T1-weighted images and uniform high intensity on T2-weighted ones but no mixed intensity cysts. Kidney biopsy findings included collapsed glomerular structures within dilated cyst-like structures. Glomerulocystic disease was diagnosed. Genetic analysis revealed 2 different INVS (nephronophthisis 2 [NPHP2]) compound heterozygous missense mutations. The NPHP2 is usually found in infants, and to our knowledge, this is the first report of an older patient with NPHP2.
Authors
- Yoshifumi Ubara (ORCID: https://orcid.org/0000-0003-2322-8203)
- Naoki Sawa (ORCID: https://orcid.org/0000-0003-2092-4094)
- Takayasu Mori (ORCID: https://orcid.org/0000-0002-9308-7787)
- Yuichiro Sawada (ORCID: https://orcid.org/0009-0007-5496-1797)
- Shinichi Uchida
- Kei Kono (ORCID: https://orcid.org/0000-0002-9918-844X)
- Yutaka Yamaguchi (ORCID: https://orcid.org/0000-0002-4907-3388)
- Masayuki Yamanouchi (ORCID: https://orcid.org/0000-0003-3264-9691)
- Keiichi Kinowaki (ORCID: https://orcid.org/0000-0001-7915-9177)
- Takehiko Wada (ORCID: https://orcid.org/0000-0002-1231-2656)
- Eisei Sohara
- Kenichi Ohashi (ORCID: https://orcid.org/0000-0003-1836-1763)
- Yuki Oba (ORCID: https://orcid.org/0000-0002-1494-3291)
- Takuya Fujimaru (ORCID: https://orcid.org/0000-0002-6825-3456)
- Tatsuya Suwabe (ORCID: https://orcid.org/0000-0003-0825-2512)
- Akinari Sekine (ORCID: https://orcid.org/0000-0001-7326-4988)
Institutions
- Tokyo Medical and Dental University (JP)
- Toranomon Hospital (JP)
Publication Details
- Journal
- Kidney Medicine
- Published
- 2024-12-27
- DOI
- https://doi.org/10.1016/j.xkme.2024.100956
- Citations
- 1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55