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Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome
Moeed Ahmed1, Abdul R Ahmed2, Rana A Farman3
1Nephrology, Northwestern University, Chicago, USA.
Cureus
|June 17, 2024
Summary
Alstrom syndrome is a rare genetic disorder affecting multiple organs. This case highlights a patient diagnosed with Alstrom syndrome due to ALMS1 gene mutations, presenting with advanced chronic kidney disease.
Area of Science:
- Genetics
- Rare diseases
- Nephrology
Background:
- Alstrom syndrome is an autosomal recessive genetic disorder.
- It is characterized by multisystemic manifestations including cardiovascular, renal, endocrine, and ocular systems.
Observation:
- A 25-year-old female presented with elevated creatinine and a history of hypothyroidism, polycystic ovarian syndrome, blindness, cataracts, hearing loss, and heart problems.
- Genetic testing revealed homozygous mutations in the ALMS1 gene, confirming the diagnosis of Alstrom syndrome.
Findings:
- The patient was diagnosed with Alstrom syndrome and exhibited chronic kidney disease (CKD) stage V.
- She was under nephrology care but was lost to follow-up after traveling.
Implications:
- This case underscores the importance of genetic diagnosis in multisystemic rare diseases like Alstrom syndrome.
- It highlights the progressive nature of renal involvement in Alstrom syndrome and the challenges in managing patients with rare genetic disorders.
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