There is no specific treatment for proliferative glomerulonephritis with monoclonal IgG deposits (PGNMID), a disease that is very rare in the pediatric population. We report the case of a 15-year-old boy who presented with mildly reduced kidney function and nephrotic syndrome. Kidney biopsy revealed PGNMID with monoclonal deposits of IgG3 with kappa light chain restriction. Flow cytometry showed a significant CD38 plasma cell population in the peripheral blood in the absence of other signs of hematological malignancy. The patient was treated with a 6-month course of daratumumab, a monoclonal antibody targeting CD38. There was a significant reduction in proteinuria and normalization of kidney function. Based on positive experience with adults, daratumumab should also be studied in children with PGNMID.

• MeSH
• antigeny CD38 imunologie   analýza   MeSH
• biopsie MeSH
• imunoglobulin G * krev   MeSH
• ledviny patologie   imunologie   účinky léků   MeSH
• lidé MeSH
• membranoproliferativní glomerulonefritida * farmakoterapie   imunologie   patologie   MeSH
• mladiství MeSH
• monoklonální protilátky * terapeutické užití   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

BACKGROUND: Several previous studies have reported a more severe course of nephrotic syndrome in children with low birth weight. PATIENTS: Cohort of 223 children with idiopathic nephrotic syndrome. METHODS: We aimed to investigate the association between course of nephrotic syndrome and low birth weight. Data from seven paediatric nephrology centres were used. RESULTS: Children with low birth weight had 3.84 times higher odds for a more severe course of steroid-sensitive nephrotic syndrome (95% CI 1.20-17.22, P=0.041), and those with low birth weight and remission after 7 days had much higher odds for a more severe course of disease (OR 8.7). Low birth weight children had a longer time to remission (median 12 vs. 10 days, P=0.03). They had a higher need for steroid-sparing agents (OR for the same sex=3.26 [95% CI 1.17-11.62, P=0.039]), and the odds were even higher in females with low birth weight (OR 6.81). There was no evidence of an association either between low birth weight and focal segmental glomerulosclerosis or between low birth weight and steroid-resistant nephrotic syndrome. DISCUSSION: We conducted the first multicentric study confirming the worse outcomes of children with NS and LBW and we found additional risk factors. CONCLUSIONS: Low birth weight is associated with a more severe course of steroid-sensitive nephrotic syndrome, while being female and achieving remission after 7 days are additional risk factors.

• MeSH
• dítě MeSH
• fokálně segmentální glomeruloskleróza farmakoterapie   MeSH
• glukokortikoidy terapeutické užití   škodlivé účinky   MeSH
• kohortové studie MeSH
• kojenec MeSH
• lidé MeSH
• nefrotický syndrom * farmakoterapie   MeSH
• novorozenec s nízkou porodní hmotností * MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• rizikové faktory 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
• multicentrická studie MeSH

Paroxysmal cold hemoglobinuria (PCH) is a rare condition in childhood characterized by complement-mediated premature destruction of red blood cells. PCH is associated with intravascular hemolysis causing hemoglobinuria, which may result in acute kidney injury of various severity. We aimed to retrospectively analyze clinical and laboratory features of children with PCH-associated acute kidney injury received at tertiary Pediatric Hematology and Nephrology Center, University Motol Hospital, Prague, Czech Republic during the period 2016 to 2022. We present here 3 children with PCH-associated acute kidney failure requiring renal replacement therapy. We highlight the association of PCH with kidney disease. Renal parameters and urine examination should be regularly tested in all children with PCH.

• MeSH
• akutní poškození ledvin * komplikace   MeSH
• dítě MeSH
• erytrocyty MeSH
• hemolýza MeSH
• lidé MeSH
• nízká teplota MeSH
• paroxysmální hemoglobinurie * komplikace   diagnóza   MeSH
• retrospektivní studie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• fatální výsledek MeSH
• hospicová a paliativní ošetřovatelská péče MeSH
• informování rodičů MeSH
• kojenec MeSH
• lidé MeSH
• odmítnutí terapie pacientem * MeSH
• primární hyperoxalurie komplikace   terapie   MeSH
• prognóza MeSH
• progrese nemoci MeSH
• renální insuficience etiologie   MeSH
• sdílené rozhodování * MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

It is known that prematurity and low birth weight are associated with chronic kidney disease and hypertension. A positive correlation between kidney volume and birth weight was also described. In our ongoing observational study in 5-year-old children, we perceived highly abnormal kidney ultrasound and functions of a male patient born weighing 370 grams. It was his first nephrology examination since discharge from the hospital. We believe that thorough follow up and timely diagnosis of developing renal insufficiency may help us to initiate proper treatment in high-risk children (Tab. 1, Fig. 1, Ref. 7).

• Publikační typ
• abstrakt z konference MeSH

Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase. Deficient activity of the ATP7A protein results in decreased intestinal absorption of copper, low copper level in serum and defective distribution of copper in tissues. The clinical symptoms are caused by decreased activities of copper-dependent enzymes and include neurodegeneration, connective tissue disorders, arterial changes and hair abnormalities. Without therapy, the disease is fatal in early infancy. Rapid diagnosis of Menkes disease and early start of copper therapy is critical for the effectiveness of treatment. We report a molecular biology-based strategy that allows early diagnosis of copper transport defects and implementation of individual therapies before the full development of pathological symptoms. Low serum copper and decreased activity of copperdependent mitochondrial cytochrome c oxidase in isolated platelets found in three patients indicated a possibility of functional defects in copper-transporting proteins, especially in the ATPA7 protein, a copper- transporting P-type ATPase. Rapid mutational screening of the ATP7A gene using high-resolution melting analysis of DNA indicated presence of mutations in the patients. Molecular investigation for mutations in the ATP7A gene revealed three nonsense mutations: c.2170C>T (p.Gln724Ter); c.3745G>T (p.Glu1249Ter); and c.3862C>T (p.Gln1288Ter). The mutation c.3745G>T (p.Glu1249Ter) has not been identified previously. Molecular analysis of the ATOX1 gene as a possible modulating factor of Menkes disease did not reveal presence of pathogenic mutations. Molecular diagnostics allowed early onset of individual therapies, adequate genetic counselling and prenatal diagnosis in the affected families.

• MeSH
• ATPasy transportující měď genetika   metabolismus   MeSH
• biologické modely MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• měď krev   metabolismus   MeSH
• Menkesova choroba genetika   metabolismus   MeSH
• metalochaperony genetika   metabolismus   MeSH
• mutace genetika   MeSH
• transportní proteiny genetika   metabolismus   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• Klíčová slova
• infekce močových cest, antibiotika, mikční cystouretrografie,
• MeSH
• akutní nemoc MeSH
• analýza moči metody   MeSH
• antibakteriální látky terapeutické užití   MeSH
• bakteriurie MeSH
• dítě MeSH
• farmakoterapie metody   MeSH
• klinický obraz nemoci MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• následná péče metody   MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• pyelonefritida diagnóza   farmakoterapie   terapie   MeSH
• rizikové faktory MeSH
• terapie metody   MeSH
• urografie metody   MeSH
• vezikoureterální reflux MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• novorozenec MeSH
• předškolní dítě MeSH

U dvouletého chlapce s nízkou hladinou estriolu v séru matky během těhotenství, anamnézou nepostupujícího porodu ukončeného císařským řezem pro hypoxii plodu se zkalenou plodovou vodou, kožními projevy ichtyózy, které se objevily ve druhémtýdnu života, a těžkou poruchou psychomotorického vývoje byla diagnostikována X-vázaná ichtyóza. Enzymatická vyšetření u chlapce, jeho matky, babičky, tety a matčina bratrance ukázala poruchu aktivity steroidsulfatázy (STS). Cytogenetické vyšetření metodou FISH u probanda i jeho příbuzných ukázalo mikrodeleci genu pro STS. Protože postižení CNS obvykle nepatří do klinického obrazu X-vázané ichtyózy, autoři se domnívají, že na vzniku psychomotorické retardace u chlapce se nejspíše podílela perinatální hypoxie při protrahovaném porodu v důsledku snížené hladiny estrogenů při deficitu placentární STS, která se podílí na syntéze estrogenů. Nemohou však vyloučit ani postnatální postižení CNS po prodělané hypernatremické dehydrataci a/nebo hypoxii při aspirační pneumonii v novorozeneckém věku. V literatuře již byl u chlapců s X-vázanou ichtyózou protrahovaný porod opakovaně popsán. Předpokládá se, že protrahovaný porod u chlapců s X-vázanou ichtyózou je způsoben nízkou hladinou estrogenů při nedostatečné aktivitě placentární STS. Ačkoliv se deficit aktivity STS vyskytuje pouze u 1 chlapce ze 2–6000, měl by být nález nízké hladiny estriolu u těhotné ženy varovným signálem pro ošetřující lékaře, aby v rámci diferenciálně diagnostické rozvahy pomýšleli i na možnost X-vázané ichtyózy.

X-linked ichthyosis was diagnosed in a 2-year old boy with lowmaternal estriol serum levels during gestation. The prolonged delivery was terminated by Caesarian section due to fetal hypoxia and turbid amniotic fluid. Apgar score was uneventful, but early postnatal adaptation was complicated by failure to thrive and hypotonia followed on by hypernatremic dehydration and aspiration pneumonia in the second week of life. At this time, cutaneous manifestations of ichthyosis was also observed and severe psychomotor retardation developed since early infancy. Enzymatic investigations in the proband, his mother and her relatives including grandmother, sister and her son revealed steroid sulfatase (STS) deficiency and the cytogenetic analyses using FISH method revealed the microdeletion of STS gene. The central nervous system impairment is usually not present in patients with X-linked ichthyosis. Although in our patient the role of hypernatremic dehydration and/or eventual hypoxia during aspiration pneumonia cannot be excluded as a cause of the postnatal CNS impairment, we suppose that also the perinatal hypoxia might be important in a boy with prolonged delivery resulting fromlowmaternal estrogens and placental STS deficiency. Because the STS deficiency affects approximately 1 in 2–6000 males, the low estriol level in pregnant woman should be an alerting marker for physicians to give a though to possibility of X-linked ichthyosis.

• MeSH
• cytogenetické vyšetření metody   využití   MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• estriol krev   nedostatek   sekrece   MeSH
• financování organizované MeSH
• ichtyóza vázaná na chromozom X diagnóza   farmakoterapie   terapie   MeSH
• komplikace porodu etiologie   chirurgie   krev   MeSH
• komplikace těhotenství chirurgie   krev   MeSH
• lidé MeSH
• mutace genetika   MeSH
• předškolní dítě MeSH
• psychomotorické poruchy diagnóza   etiologie   MeSH
• těhotenství krev   metabolismus   MeSH
• vrozené, dědičné a novorozenecké nemoci a abnormality diagnóza   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• těhotenství krev   metabolismus   MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

Based on Internet search, we were contacted by a 50-year-old man suffering from severe abdominal pain. Acute hepatic porphyria was considered from positive Watson-Schwartz test. He, not being a health professional, searched for centres with ability to do molecular diagnosis and for information about therapeutic possibilities. He asked his physician for haem-arginate (Normosang, Orphan Europe, Paris) treatment, arranged sending his blood to our laboratory and mediated genetic counselling for him and his family. Molecular analyses of the PBGD gene revealed a novel mutation in exon 15, the 973insG. Subsequently, genetic analysis was performed in 18 members of the proband's extensive family. In 12 members of the family, the same mutation was found. The mutation, which consisted of one nucleotide insertion, resulted in addition of four different amino acids leading to a protein that is prematurely truncated by the stop codon. The effect of this mutation was investigated by expression of the wildtype and mutated PBGD in a prokaryotic expression system. The mutation resulted in instability of the protein and loss of enzymatic function. The increasing access to a number of disease- and symptom-oriented web pages presents a new and unusual venue for gaining knowledge and enabling self-diagnosis and self-help. It is, therefore, important that diseaseoriented Internet pages for public use should be designed with clarity and accurate current knowledge based background.

• MeSH
• akutní intermitentní porfyrie diagnóza   genetika   krev   MeSH
• diagnostické techniky molekulární metody   využití   MeSH
• dospělí MeSH
• elektroforéza metody   využití   MeSH
• financování organizované využití   MeSH
• mutace genetika   MeSH
• mutační analýza DNA metody   využití   MeSH
• muži MeSH
• polymerázová řetězová reakce metody   využití   MeSH
• porfobilinogen izolace a purifikace   krev   MeSH
• Check Tag
• dospělí MeSH
• Publikační typ
• kazuistiky MeSH