Beyond the Kidney: A Systematic Review of Extrarenal Manifestations in MAPKBP1 -Related Nephronophthisis.
Enrico Ambrosini, Anita Luberto, Sabrina Busciglio et al.
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In 30 seconds
This systematic review examined extrarenal manifestations in 19 patients with MAPKBP1-related nephronophthisis (NPHP20). The study found that most patients exhibited at least one extrarenal feature, with scoliosis being the most common, reported in eight patients. The review highlights the need for further research to understand the broader phenotypic spectrum associated with this rare genetic disorder.
Key findings
- Scoliosis was reported in eight of 19 patients with MAPKBP1-related nephronophthisis.
- Other extrarenal manifestations included short stature, patellar subluxation, and craniofacial dysmorphisms.
- The majority of identified MAPKBP1 variants were stop-gain, splice-site, and frameshift variants.
- Most included studies were of high or moderate methodological quality.
Why it matters
Understanding the extrarenal manifestations of MAPKBP1-related nephronophthisis is crucial for clinicians, as it may influence patient management and highlight the need for multidisciplinary care in affected individuals.
What to keep in mind
The evidence is limited by the rarity of MAPKBP1-related disease and the small number of reported patients.