BACKGROUND: Individuals with congenital solitary functioning kidney (SFK) are at an increased risk of kidney damage. According to some studies, the risk is higher in unilateral kidney agenesis (UKA) than in unilateral multicystic dysplastic kidney (UMCDK). We hypothesized that with early detection of children with UKA and UMCDK, there would be no difference in the presence of hypertension, proteinuria, and reduced glomerular filtration rate (GFR) between UKA and UMCDK. METHODS: Based on a long-term follow-up protocol, we evaluated a cohort of 160 children followed from birth for SFK (84 with UKA and 76 with UMCDK) detected by prenatal or routine neonatal ultrasound screening. Hypertension, proteinuria, and reduced GFR were monitored as markers of kidney damage. We compared the characteristics and outcomes of the subgroups of children with UKA and UMCDK. RESULTS: GFR was reduced in 42 (26.2%) children, of whom 41 showed only mild reduction. Hypertension and proteinuria were found in 22 (13.8%) and 14 (8.8%) children, respectively. Combined kidney damage was present in 57 (35.6%) children. The UMCDK and UKA subgroups differed in GFR at final examination, with UMCDK patients being significantly more likely to have normal GFR compared to UKA patients (82% vs. 67%; p = 0.039). CONCLUSIONS: One third of the children showed signs of SFK damage, albeit mild. Patients with UKA had reduced GFR significantly more often than those with UMCDK, but did not differ in the rates of hyperfiltration injury or congenital anomalies of the kidneys and urinary tract (CAKUT) in SFK.

• Klíčová slova
• CAKUT, Functional solitary kidney, Glomerular filtration rate, Unilateral kidney agenesis, Unilateral multicystic dysplastic kidney,
• MeSH
• časná diagnóza * MeSH
• dítě MeSH
• hodnoty glomerulární filtrace * MeSH
• hypertenze diagnóza   etiologie   epidemiologie   patofyziologie   MeSH
• kojenec MeSH
• ledviny * abnormality   patofyziologie   diagnostické zobrazování   MeSH
• lidé MeSH
• multicystické dysplastické ledviny * diagnóza   komplikace   patofyziologie   MeSH
• následné studie MeSH
• nemoci ledvin vrozené   MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• předškolní dítě MeSH
• prognóza MeSH
• proteinurie * etiologie   diagnóza   MeSH
• solitární ledvina * komplikace   diagnóza   patofyziologie   MeSH
• vrozené vady diagnóza   diagnostické zobrazování   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH

• Klíčová slova
• ABNORMALITIES *, KIDNEYS/abnormalities *,
• MeSH
• ledviny abnormality   MeSH
• lidé MeSH
• nemoci ledvin * MeSH
• vrozené vady * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

AIMS: The aim of this retrospective study was to determine the detection rate of the pathogenic copy number variants (CNVs) in a cohort of 33 foetuses - 32 with CHD (congenital heart defects) and 1 with kidney defect, after exclusion of common aneuploidies (trisomy 13, 18, 21, and monosomy X) by karyotyping, Multiplex ligation - dependent probe amplification (MLPA) and chromosomal microarray analysis (CMA). We also assess the effectivity of MLPA as a method of the first tier for quick and inexpensive detection of mutations, causing congenital malformations in foetuses. METHODS: MLPA with probe mixes P070, P036 - Telomere 3 and 5, P245 - microdeletions, P250 - DiGeorge syndrome, and P311 - CHD (Congenital heart defects) was performed in 33 samples of amniotic fluid and chorionic villi. CMA was performed in 10 relevant cases. RESULTS: Pathogenic CNVs were found in 5 samples: microdeletions in region 22q11.2 (≈2 Mb) in two foetuses, one distal microdeletion of the 22q11.2 region containing genes LZTR1, CRKL, AIFM3 and SNAP29 (≈416 kb) in the foetus with bilateral renal agenesis, 8p23.1 (3.8 Mb) microdeletion syndrome and microdeletion in area 9q34.3 (1.7 Mb, Kleefstra syndrome). MLPA as an initial screening method revealed unambiguously pathogenic CNVs in 15.2 % of samples. CONCLUSION: Our study suggests that MLPA and CMA are a reliable and high-resolution technology and should be used as the first-tier test for prenatal diagnosis of congenital heart disease. Determination of the cause of the abnormality is crucial for genetic counselling and further management of the pregnancy.

• Klíčová slova
• bilateral renal agenesis, clinical variability, congenital heart defect, copy number variants,
• MeSH
• lidé MeSH
• pilotní projekty MeSH
• plod MeSH
• retrospektivní studie MeSH
• těhotenství MeSH
• transkripční faktory genetika   MeSH
• variabilita počtu kopií segmentů DNA * genetika   MeSH
• vrozené srdeční vady * diagnóza   genetika   MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• LZTR1 protein, human MeSH Prohlížeč
• transkripční faktory MeSH

A single kidney in patients with agenesis or after nephrectomy is regarded as a risk factor. Primarily, the role of glomerular hyperfiltration and later possible glomerular sclerosis are emphasised. Complex treatment of Wilms tumour patients includes previous chemotherapy and radiotherapy. The aim of our study was to investigate late sequelae of this aggressive treatment on the morphology and function of a single kidney and to compare these results with a group of single kidney patients, where the diagnosis of Wilms tumour was excluded.

• MeSH
• dítě MeSH
• dospělí MeSH
• krevní tlak MeSH
• ledviny patologie   patofyziologie   MeSH
• lidé MeSH
• mladiství MeSH
• nádory ledvin chirurgie   MeSH
• nefrektomie * MeSH
• vyšetření funkce ledvin MeSH
• Wilmsův nádor chirurgie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH