MOLECULAR AND PHENOTYPIC HETEROGENEITY OF GENETIC KIDNEY DISEASES: A SINGLE CENTER COHORT STUDY

 

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MOLECULAR AND PHENOTYPIC HETEROGENEITY OF GENETIC KIDNEY DISEASES: A SINGLE CENTER COHORT STUDY

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Mythri
Shankar
Mythri Shankar mythri.nish@gmail.com Institute of Nephrourology Nephrology Bengaluru India *
Manjunath Reddy mreddy@gmail.com Institute of Nephrourology Nephrology Bengaluru India -
Dwarak Sampath Kumar dks@gmail.com Institute of Nephrourology Nephrology Bengaluru India -
Gireesh Reddy gr@gmail.com Institute of Nephrourology Nephrology Bengaluru India -
Sreedhara CG scg@gmail.com Institute of Nephrourology Nephrology Bengaluru India -
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Genetic kidney diseases represent a clinically and genetically heterogeneous group of inherited disorders that contribute substantially to chronic kidney disease burden, particularly in populations with elevated consanguinity rates. These monogenic disorders affect glomeruli, tubules, interstitium, and collecting systems across all age groups. Early genetic diagnosis enables precise clinical management, genetic counseling, family screening, and reproductive planning. However, comprehensive datasets characterizing the clinical, biochemical, histopathological, and molecular spectrum remain limited. This study aimed to systematically analyze demographic characteristics, clinical presentations, biochemical parameters, inheritance patterns, genetic mutations, histopathological findings, and renal outcomes in patients with molecularly confirmed genetic kidney diseases.
We conducted a prospective analysis of 82 patients with genetically confirmed kidney diseases from January 2022 to April 2025. Demographic data including age, gender, family history, and consanguinity status were systematically recorded. Clinical parameters and kidney biopsy findings were reviewed when available. Comprehensive genetic testing identified causative genes, inheritance patterns (autosomal dominant, autosomal recessive, X-linked), and zygosity status (homozygous, compound heterozygous, heterozygous, hemizygous). Whole exome sequencing and Multiplex Ligation-dependent Probe Amplification was performed. Clinical syndromes and phenotypic presentations were categorized using established diagnostic criteria.

The cohort comprised 52 males and 30 females with mean age 29.4 years (range 5-65 years). Positive family history was documented in 55.6% while consanguinity was present in 38.9%. Hypertension affected 58.3%. Mean hemoglobin was 10.11±2.50 g/dL, creatinine 5.47±4.68 mg/dL, and albumin 3.39±0.84 g/dL. Severe chronic kidney disease with eGFR less than 15 mL/min/1.73m² was present in 55.6%, while 44.4% required maintenance dialysis. Inheritance patterns included autosomal recessive 36.1%, autosomal dominant 22.2%, and X-linked 5.6%. Homozygous mutations were identified in 33.3% and heterozygous mutations in 27.8%. Complement pathway genes (CFHR1, CFHR3, CFHR4, CFH, CD46) collectively account for 31 patients (36.5%), making complement dysregulation the most prevalent genetic mechanism in this cohort.CFHR1,CFHR3 deletions are the single most common genetic abnormality, affecting nearly (Table 1)one-quarter of all patients and primarily associated with c-TMA and C3 glomerulopathy . Complement-mediated kidney diseases (TMA and C3G) represent the overwhelming majority of this cohort at nearly 58%, Other major categories include Cystic kidney diseases (ADPKD): 6 patients (7.1%), Hereditary glomerulopathies (Alport syndrome): 4 patients (4.7%), Tubular disorders (Barter syndrome): 3 patients (3.5%), Congenital nephrotic syndrome: 2 patients (2.4%), Syndromic ciliopathies (Senior Loken, Bardet Biedl, Nephronophthisis): 3 patients (3.5%) (table 2). Additional syndromic features included hearing loss, retinitis pigmentosa, skeletal abnormalities, and developmental anomalies in multiple patients.Table 1 - Genetic distribution

This cohort demonstrates substantial genetic heterogeneity in inherited kidney diseases with autosomal recessive inheritance and consanguinity representing prominent features. The high prevalence of advanced CKD stage 5 and dialysis-dependent kidney failure at presentation underscores critical need for earlier genetic screening in affected families.
Kewords