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.

• 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

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.

• 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

Zinnerův syndrom je vzácná vývojová anomálie Wolfova vývodu charakterizovaná unilaterální renální agenezí, stejnostrannou cystickou dilatací semenného váčku a obstrukcí ductus ejaculatorius. Diagnóza bývá stanovena nejčastěji v období zvýšené sexuální aktivity. Pacienti mohou mít problémy s plodností v důsledku obstrukce ductus ejaculatorius. V našem sdělení uvádíme kazuistiku 15letého chlapce, který byl v naší nemocnici poprvé vyšetřen již prenatálně. Ve 21. týdnu těhotenství byla diagnostikována multicystická dysplazie pravé ledviny, útvar zcela vymizel ve 20 měsících věku. V 15 letech byla zjištěna cystická dilatace pravostranného semenného váčku a s pomocí magnetické rezonance stanovena diagnóza Zinnerova syndromu.

Zinner syndrome is a rare congenital anomaly of Wolffian duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cysts and ejaculatory duct obstruction. The diagnosis is usually established at the age of increased sexual activity (adults, adolescents). Patients with this diagnosis have fertility problems as a result of ejaculatory duct obstruction. We present a case of a boy followed in our department since birth for right renal multicystic dysplasia diagnosed prenatally. At the age of 20 months a resorption of dysplastic kidney was detected and the boy was followed as a patients with a solitary kidney. At the age of 15 years a retrovesical multilocular mass was discovered on ultrasound. Magnetic resonance imaging of abdomen and pelvis revealed cystic dilatation of seminal vesicle and the diagnosis was established.

• Klíčová slova
• Zinnerův syndrom,
• MeSH
• cysty * diagnóza   MeSH
• ductus ejaculatorius abnormality   diagnostické zobrazování   MeSH
• lidé MeSH
• mladiství MeSH
• multicystické dysplastické ledviny MeSH
• semenné váčky * abnormality   diagnostické zobrazování   MeSH
• vrozené vady diagnóza   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH