BACKGROUND: Many studies have demonstrated the association between low birth weight (LBW) and chronic kidney disease, estimated glomerular filtration rate (eGFR) and kidney volume (KV). However, studies on twins and those investigating numerous perinatal factors beyond LBW, and their associations with various kidney parameters are scarce. METHODS: A two-center cross-sectional study on five-year-old LBW children was conducted between 2021 and 2023. 110 children were enrolled (8 LBW, 58 very LBW (VLBW), 44 extremely LBW (ELBW)); 56 were twins. We examined associations between birth weight (BW), various prenatal, perinatal and postnatal factors, and eGFR, KV, tubular abnormalities and kidney ultrasound abnormalities, both in singletons and twins. RESULTS: In children with ELBW, eGFR correlated with BW (r = 0.55, P = 0.0018), while in those with BW ≥ 1000 g, eGFR remained constant. Other factors associated with decreased eGFR were hypertensive disorder of pregnancy (93.86 vs. 87.26 ml/min/1.73m2, P = 0.0285) in singletons, decreased growth velocity (β = 0.83, P = 0.0277) in twins, and lower total KV (tKV) and relative KV (rKV) in both singletons (r = 0.60, P < 0.0001 for tKV and r = 0.45, P = 0.0010 for rKV) and twins (β = 0.34, P < 0.0001 for tKV and β = 0.23, P = 0.0002 for rKV). Based on the multivariable models excluding KV, BW and gestational age were associated with eGFR in singletons, while male gender, BW, growth velocity, and coffee drinking during pregnancy were associated with eGFR in twins. However, in models that included KV, BW, gestational age and growth velocity were no longer significant. Total KV was associated with BW (r = 0.39, P = 0.0050 for singletons; β = 2.85, P < 0.0001 for twins), body mass index (r = 0.34, P = 0.0145 for singletons; β = 8.44, P < 0.0001 for twins), and growth velocity (β = 1.43, P = 0.0078). Twins born small for gestational age had lower tKV (70.88 vs 89.20 ml, P < 0.0001). Relative KV showed similar associations. Relative kidney volumes were significantly lower for both kidneys compared to the reference population (55.02 vs 65.42 ml/m2, P < 0.0001 for right kidney and 61.12 vs 66.25 ml/m2, P = 0.0015 for left kidney); however, only 8.6% of children had rKV below 10th percentile. CONCLUSION: Many factors affect eGFR and KV, some of them differ between twins and singletons. Based on multivariable models, eGFR seems to be better predicted by KV than by BW and gestational age in LBW children. Relative kidney volumes were significantly lower in our cohort compared to the reference population, but only 8.6% of rKV were below 10th percentile.

• MeSH
• Renal Insufficiency, Chronic epidemiology   etiology   physiopathology   MeSH
• Twins MeSH
• Glomerular Filtration Rate * MeSH
• Kidney * diagnostic imaging   physiopathology   MeSH
• Humans MeSH
• Infant, Low Birth Weight * MeSH
• Infant, Newborn MeSH
• Birth Weight MeSH
• Child, Preschool MeSH
• Cross-Sectional Studies MeSH
• Risk Factors MeSH
• Pregnancy MeSH
• Organ Size MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH

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
• ADP-ribosyl Cyclase 1 immunology   analysis   MeSH
• Biopsy MeSH
• Immunoglobulin G * blood   MeSH
• Kidney pathology   immunology   drug effects   MeSH
• Humans MeSH
• Glomerulonephritis, Membranoproliferative * drug therapy   immunology   pathology   MeSH
• Adolescent MeSH
• Antibodies, Monoclonal * therapeutic use   MeSH
• Treatment Outcome MeSH
• Check Tag
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Case Reports 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
• Child MeSH
• Glomerulosclerosis, Focal Segmental drug therapy   MeSH
• Glucocorticoids therapeutic use   adverse effects   MeSH
• Cohort Studies MeSH
• Infant MeSH
• Humans MeSH
• Nephrotic Syndrome * drug therapy   MeSH
• Infant, Low Birth Weight * MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Risk Factors MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Male MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study 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
• Acute Kidney Injury * complications   MeSH
• Child MeSH
• Erythrocytes MeSH
• Hemolysis MeSH
• Humans MeSH
• Cold Temperature MeSH
• Hemoglobinuria, Paroxysmal * complications   diagnosis   MeSH
• Retrospective Studies MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH

• MeSH
• Fatal Outcome MeSH
• Hospice and Palliative Care Nursing MeSH
• Parental Notification MeSH
• Infant MeSH
• Humans MeSH
• Treatment Refusal * MeSH
• Hyperoxaluria, Primary complications   therapy   MeSH
• Prognosis MeSH
• Disease Progression MeSH
• Renal Insufficiency etiology   MeSH
• Decision Making, Shared * MeSH
• Check Tag
• Infant MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Case Reports 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).

• Publication type
• Meeting Abstract 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
• Copper-Transporting ATPases genetics   metabolism   MeSH
• Models, Biological MeSH
• Child MeSH
• Infant MeSH
• Humans MeSH
• Copper blood   metabolism   MeSH
• Menkes Kinky Hair Syndrome genetics   metabolism   MeSH
• Metallochaperones genetics   metabolism   MeSH
• Mutation genetics   MeSH
• Carrier Proteins genetics   metabolism   MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH

• Keywords
• infekce močových cest, antibiotika, mikční cystouretrografie,
• MeSH
• Acute Disease MeSH
• Urinalysis methods   MeSH
• Anti-Bacterial Agents therapeutic use   MeSH
• Bacteriuria MeSH
• Child MeSH
• Drug Therapy methods   MeSH
• Disease Attributes MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Aftercare methods   MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Pyelonephritis diagnosis   drug therapy   therapy   MeSH
• Risk Factors MeSH
• Therapeutics methods   MeSH
• Urography methods   MeSH
• Vesico-Ureteral Reflux MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Infant, Newborn MeSH
• Child, Preschool 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
• Cytogenetic Analysis methods   utilization   MeSH
• Diagnosis, Differential MeSH
• Adult MeSH
• Estriol blood   deficiency   secretion   MeSH
• Financing, Organized MeSH
• Ichthyosis, X-Linked diagnosis   drug therapy   therapy   MeSH
• Obstetric Labor Complications etiology   surgery   blood   MeSH
• Pregnancy Complications surgery   blood   MeSH
• Humans MeSH
• Mutation genetics   MeSH
• Child, Preschool MeSH
• Psychomotor Disorders diagnosis   etiology   MeSH
• Pregnancy blood   metabolism   MeSH
• Congenital, Hereditary, and Neonatal Diseases and Abnormalities diagnosis   genetics   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Child, Preschool MeSH
• Pregnancy blood   metabolism   MeSH
• Female MeSH
• Publication type
• Case Reports MeSH