Kidney Week

Abstract: FR-PO0128

Combined Alport and Klinefelter Syndrome: A Case Report and Literature Review

Session Information

• Hereditary Glomerular and Tubulointerstitial Kidney Diseases
  October 23, 2026 | Location: Exhibit Hall A, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1202 Genetic Diseases of the Kidneys: Non-Cystic (Complex and Non-Cystic Monogenic)

Authors

• Elamin, Nusiba Hafiz, Hamad Medical Corporation, Doha, Qatar

Nusiba Hafiz Elamin, MBBS

• Ibrahem, Mahmoud Suliman Mohammed Salih, Hamad Medical Corporation, Doha, Qatar

Mahmoud Suliman Mohammed Salih Ibrahem, MD, MBBS

• Abuhelaiqa, Essa, Hamad Medical Corporation, Doha, Qatar

Essa Abuhelaiqa, MD, FASN

• Umer, Waseem, Hamad Medical Corporation, Doha, Qatar

Waseem Umer, MBBS

• Asim, Muhammad, Hamad Medical Corporation, Doha, Qatar

Muhammad Asim, MD

Introduction

Alport syndrome is a rare genetic condition of type IV collagen, most commonly due to mutations in COL4A5 genes. It is characterised by haematuria, increasing renal failure, sensorineural hearing loss and ocular abnormalities. Klinefelter syndrome is a chromosomal abnormality with a 47, XXY karyotype. It causes hypogonadism, infertility, and developmental or endocrine features. The coexistence of Alport syndrome and Klinefelter syndrome is extremely unusual, and only a few cases have been published in the literature. The presence of an extra X chromosome may influence the expression and inheritance pattern of X-linked Alport syndrome, rendering this atypical inheritance clinically significant. Thus, reporting such cases would improve our knowledge of the clinical presentation, genetic association, and long-term treatment of this uncommon combination illness.

Case Description

A 54-year-old healthy male is following up with our nephrology clinic for a pre-donation workup as a potential kidney donor for his brother; he has an unremarkable medical history apart from hypertension. All work-ups came back negative except for persistent haematuria, for which a kidney biopsy was done, with an impression of a thin basement membrane. Then we referred him to genetics to rule out Alport syndrome. The genetic test of the nephrotic syndrome/focal segmental glomerulosclerosis panel came back positive, as he was found to have a chromosome X multi-gene copy number variant including the OCRL, GLA, STS, and COL4A5 gene(s) that may contribute to the reported clinical features in the patient. The karyotype showed 47, XXY, with the presence of an extra "X" chromosome, establishing the diagnosis of Klinefelter syndrome. Hence, he was deemed not fit for Kidney donation

Discussion

Alport and Klinefelter syndromes rarely occur together. This case is remarkable since genetic testing was performed on a living kidney donor following persistent microscopic haematuria and biopsy findings of thin basement membranes. The detected mutation in the X chromosome's copy number in COL4A5 is clinically important, since COL4A5 is associated with X-linked Alport syndrome and karyotyping showed 47, XXY, which validated the diagnosis of Klinefelter syndrome. Genetic testing and karyotype analysis may be useful in the diagnosis of collagen IV-related nephropathy, especially when they affect donor eligibility, renal prognosis and family counselling.

Acknowledgment

We thank all the medical and laboratory teams for their knowledge and commitment, which were of crucial importance for the diagnosis of this uncommon combination of Klinefelter syndrome and Alport syndrome. We would like to thank our mentors and colleagues for their helpful advice and support during the writing of this report.