# Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome

## TL;DR

A 25-year-old woman with Alstrom syndrome developed advanced chronic kidney disease and was lost to follow-up after traveling to Italy.

## Contribution

This case report highlights the progression of CKD in a patient with Alstrom syndrome and the challenges of follow-up.

## Key findings

- The patient was diagnosed with Alstrom syndrome via genetic testing.
- She developed CKD stage V, indicating severe kidney dysfunction.
- The patient was lost to follow-up after traveling to Italy.

## Abstract

Alstrom syndrome is an autosomal recessive disease. It affects multiple systems, including cardiovascular, renal, endocrine, and eyes. Our patient is a 25-year-old female who presented with elevated creatinine. Her past medical history was significant for hypothyroidism, polycystic ovarian syndrome, blindness, cataracts, hearing loss, and heart problems. She had genetic testing done that revealed that she was homozygous for the ALMS1 gene and was diagnosed with Alstrom syndrome. She was followed by nephrology in the clinic and had chronic kidney disease (CKD) stage V. The patient traveled to Italy and was lost to follow-up.