Ni Made Ayu Agustini, I Ketut Suarta, Gusti Ayu Putu Nilawati, I Gusti Kamasan Nyoman Arijana
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. Only a few renal cysts are detected in most affected individuals before 30 years of ages and only 2% of patients with ADPKD present with early clinical manifestations before 15 years old. The average age at onset of chronic kidney disease (CKD) was 50 years. ADPKD is caused by mutations in one of two genes, PKD 1 and PKD 2. PKD1 was associated with more severe disease than PKD2, with earlier age at diagnosis, higher number of kidney cysts, the earlier onset of hypertension and faster progression to CKD stage five.
Objective: To describe of the factors that caused early onset of CKD stage five in ADPKD.
Case: An 11 years old boy diagnosed with CKD stage 5 caused by ADPKD with urinary tract infection. The patient complaint with fatigue, pale, fever, flank pain and cloudy urine. The grandfather got the renal failure history and aunty got hypertension since she was young. The parents of patient have consanguinous mating. In the physical examination has been found hypertension grade 1. The laboratory test has been shown decrease of glomerular filtration rate, anemia, imbalance electrolite and metabolic acidosis. Urine investigation with leucosituria and positive E. Colli. Ultrasonography and CT stonography showed bilateral multiple cysts in the kidneys with left kidney enlargement. His parents also got multiple cysts in both of kidneys with the normal size of kidneys. Gene analysis showed homozygous for missense mutations 11734insC, in exon 43 of the PKD 1 gene. The patient got regular hemodialysis and other supportive therapy.
Conclusion: The early onset of CKD stage five in ADPKD is related to PKD 1 homozygous gene mutation, male gender and enlargement of kidney.
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