Kidney Week

Abstract: TH-PO1234

Targeted Autosomal Dominant Tubulointerstitial Kidney Disease Gene Evaluation of Early-Onset CKD of Unknown Etiology in Mexico

Session Information

• Late-Breaking Research Posters
  October 22, 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

• Said, J. Emilio, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico

J. Emilio Said, MD

• Derflingher Hernández, Konighinn Ludwika, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico

Konighinn Ludwika Derflingher Hernández, MD

• Núñez Morales, Alfonso Gabriel, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico

Alfonso Gabriel Núñez Morales, MD

• Vázquez, Norma Hilda, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico

Norma Hilda Vázquez

• Castañeda-Bueno, Maria, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico

Maria Castañeda-Bueno, PhD

• Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States

Kendrah O. Kidd, PhD

• Sanchez, Antonio, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States

Antonio Sanchez

• Zivna, Martina, Univerzita Karlova 1 lekarska fakulta, Prague, Czechia

Martina Zivna, MS, MSc, PhD

• Kmochova, Tereza, Univerzita Karlova 1 lekarska fakulta, Prague, Czechia

Tereza Kmochova, MSc

• Kmoch, Stanislav, Univerzita Karlova 1 lekarska fakulta, Prague, Czechia

Stanislav Kmoch, MS, MSc, PhD

• Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States

Anthony J. Bleyer, MD, MS, FASN

• Argaiz, Eduardo R., Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico

Eduardo R. Argaiz, MD, PhD

• Gamba, Gerardo, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico

Gerardo Gamba, MD, PhD

• Greka, Anna, Broad Institute, Cambridge, Massachusetts, United States

Anna Greka, MD, PhD

• Bazua-Valenti, Silvana, Broad Institute, Cambridge, Massachusetts, United States

Silvana Bazua-Valenti, MBBS, PhD

Background

Chronic kidney disease (CKD) of unknown etiology may conceal monogenic tubulointerstitial disorders, particularly in patients with early disease onset, bland urinary sediment, gout or hyperuricemia, and familial kidney disease. Genomic data from Mexican patients remain markedly underrepresented. We established a phenotype-enriched registry to identify and genetically characterize individuals with suspected autosomal dominant tubulointerstitial kidney disease (ADTKD).

Methods

We conducted prospective recruitment at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (July 2025 – July 2026). Patients with CKD of unknown etiology were screened using clinical criteria including early-onset CKD, family history, hyperuricemia or gout, minimal hematuria and proteinuria, and no alternative diagnosis. Consenting participants underwent standardized phenotyping, biospecimen collection, and MUC1 sequencing.

Results

Among 695 screened individuals, 431 were enrolled. Analyses were restricted to 428 participants with CKD after excluding three unaffected relatives of a MUC1-positive proband. Mean age at CKD diagnosis was 26.7 ± 12.1 years; 277 of 428 participants (64.7%) were diagnosed between 20 and 45 years of age. A first-degree relative with CKD of unknown etiology was reported by 52 of 428 participants (12.1%). Hyperuricemia and gout were each documented in 43 of 428 (10.0%). Among 196 participants sequenced for MUC1, two received a molecular diagnosis of ADTKD-MUC1 (1.0%). Mean serum creatinine was 6.10 ± 6.07 mg/dL among 195 participants with available measurements. Among 147 with urinalysis data, 128 (87.1%) had minimal or absent hematuria (<3 red blood cells/high-power field). Among 142 with urine albumin-to-creatinine ratio data, 61 (43.0%) had normoalbuminuria (<30 mg/g), 38 (26.8%) had microalbuminuria (30–300 mg/g), and 43 (30.3%) had macroalbuminuria (>300 mg/g).

Conclusion

Targeted screening identified a Mexican cohort with features of inherited tubulointerstitial disease. Two MUC1 diagnoses show that genetic evaluation can resolve cryptogenic CKD and guide counseling and family screening. Locally led genetic registries in underrepresented countries are critical to identify trial-eligible patients and enable equitable participation in future ADTKD clinical trials.

Funding

• Private Foundation Support