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Renal disease in children
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
From the list of options above, choose the most appropriate clinical action for each of the following clinical scenarios. Each option may be used once, more than once, or not at all. A 12-year-old renal transplant recipient presents with poor oral intake and febrile urinary tract infection with increase in plasma creatinine from 100 to 150 μmol/L.A 6-year-old received a living related renal transplant from his mother 4 weeks ago for end-stage renal failure secondary to bilateral renal dysplasia. He has been treated for febrile urinary tract infection and has had recurrent episodes of macroscopic haematuria with transplant hydronephrosis on renal ultrasound.A 2-year-old received a living related renal transplant from his mother one week ago for end-stage renal failure secondary to congenital nephrotic syndrome. He has good oral intake and normal examination without fever and his plasma creatinine has increased from 40 to 100 μmol/L with normal trough tacrolimus level and transplant renal ultrasound.
Genitourinary problems
Published in Janet M Rennie, Giles S Kendall, A Manual of Neonatal Intensive Care, 2013
Janet M Rennie, Giles S Kendall
The normal newborn infant may excrete up to 1 g albumin/L during the first 24–48 hours of life, but the level falls rapidly after that period. Proteinuria in the neonatal period is rare as a primary finding. It is common in association with any of the severe illnesses such as septicaemia, HIE, hypotension and DIC, which compromise renal perfusion and in some cases also cause haematuria. Massive proteinuria occurs in congenital nephrotic syndrome.
Accident and Emergency
Published in Nagi Giumma Barakat, Get Through, 2006
An increasing number of syndromes are associated with renal cystic diseases. Trisomy 21 is not associated with an increase in the incidence of renal cystic diseases, although trisomies 13 and 18, Laurence-Moon-Biedl syndrome, Neil-Pettla syndrome, Jeune’s syndrome, orofacial-digital syndrome and triploidy are. Medullary cystic diseases can also be seen in newborn babies, and can be autosomal dominant or recessive. They are characterized by hyposthenuria, anaemia and retinal changes, and a diagnosis can be confirmed by renal biopsy. Microcystic renal disease will be found with congenital nephrotic syndrome. The major cystic renal anomalies in a newborn are associated with polycystic kidney diseases. The autosomal recessive poly-cystic kidney diseases can develop from birth, with poor production of urine, and may lead to Potter’s syndrome. The autosomal dominant type, which can be detected in babies, is usually more obvious in adult life. Large multicystic kidneys can be associated with renal dysplasia, and a prenatal diagnosis can be made. Most of the time, the condition is unilateral, and the kidney does not function.
Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence?
Published in Acta Clinica Belgica, 2021
Tülin Güngör, Fehime Kara Eroğlu, Evrim Kargın Çakıcı, Fatma Yazılıtaş, Gökçe Can, Evra Çelikkaya, Deniz Karakaya, Eda Didem Kurt Şükür, Fatih Özaltın, Beytullah Yağız, Mehmet Bülbül
Congenital nephrotic syndrome (CNS) is a heterogeneous disorder that generally starts in utero or within the first 3 months of life and characterized by severe proteinuria, hypoalbuminemia and edema [1]. The majority of patients with CNS show mutations in genes encoding key podocyte proteins that constitute the slit diaphragm (NPHS1 and NPHS2); others are expressed in the podocyte membrane (PLCE1) or glomerular basement membrane (LAMB2), and other genes encode transcription factors (WT1, LMX1B) [2]. Mutations in genes coding structural and regulatory proteins of the glomerular filtration barrier are the main cause of congenital nephrotic syndrome. Autosomal recessive mutations in the NPHS1 gene are a common cause of congenital nephrotic syndrome. CNS is usually a single-organ disorder that is restricted to the kidneys, but it can manifest other extra-renal developmental abnormalities [3]. Progression to end-stage kidney disease (ESKD) occurs within a few years in most patients so the goals of therapy during infancy are the prevention and treatment of complications, such as infections and thrombosis, and the achievement of sufficient physical growth to allow for an adult kidney transplant. However, most infants with CNS exhibit a failure to thrive due to insufficient oral intake and/or frequent vomiting [1]. Here we present a case of Finnish-type congenital nephrotic syndrome along with feeding problems and abdominal distention which was diagnosed during follow-up as a gastric-duplication cyst with a novel mutation in the nephrin gene.
Peritoneal dialysis outcomes in patients with nephrotic syndrome: a propensity score-matched cohort study
Published in Renal Failure, 2020
Si-Jia Zhou, Ya-Kun Cong, Qing-Feng Han, Wen Tang, Tao Wang
Previous studies that investigated the effect of PD treatment for NS are generally scarce. Most studies are case reports and mainly focused on short-term PD treatment for refractory edema and fluid overload in patients with severe steroid-resistant NS. In those cases, short-term PD treatment that could provide ultrafiltration (UF) via the peritoneum was used as an effective alternative therapy for extracorporeal UF in both children [6] and adults [10,11, 14]. Barman et al. reported a successful treatment of edema using short-term PD in a child with diuretic-resistant NS and acute kidney injury (AKI). Significant improvement of blood pressure control, response to diuretic, and recovery from the AKI were achieved, and the procedure was tolerated well. The novel short-term use of PD was also mentioned by Harshman et al. [15] in an infant with congenital NS. Although fluid management was improved in that case, the infant died after 2 months of therapy because of multiple complications. In adult patients with NS, Takada et al. [14] introduced icodextrin-single PD therapy to a patient with idiopathic membranous nephropathy patient and overhydration. Refractory subcutaneous edema was alleviated, and remission of NS occurred after 2 weeks of PD treatment. The long-term outcomes of patients with NS were only mentioned in a 5-year retrospective case note review conducted by Dufek et al., who focused on infants with congenital nephrotic syndrome (CNS) [9]. In that study, chronic dialysis was commenced in 44 infants with CNS, while PD was the modality of choice in 93%. The complication, growth, and transplantation rates in infants with CNS on dialysis are comparable to those reported in infants with other primary renal diseases.
Prevalence of hypothyroidism in Japanese chronic kidney disease patients
Published in Renal Failure, 2020
Rena Yuasa, Yasushi Ohashi, Akinobu Saito, Kumiko Tsuboi, Seiichiro Shishido, Ken Sakai
In the general population, the prevalence of hypothyroidism is 4.6% in the United States, but some differences exist among ethnicities [19]. The prevalence of hypothyroidism is 0.7–2.1% in Japan [20], but there are no official population-based data regarding the incidence of hypothyroidism among Japanese adults. In Korea, the prevalence of OH and SH is 0.73% (males, 0.40%; females, 1.10%) and 3.10% (males, 2.26%; females, 4.04%), respectively [21]. In the present study, the prevalence of OH was 12.0%, while that of SH was 14.9%. These were higher than those in previous reports, but showed no gender difference. It is an established theory that there is a greater incidence of hypothyroidism among females [19–21]. However, our data showed a notable result in thyroidology to find no female predominance, which reflected that hypothyroidism derived from CKD rather than gender difference. In general, several factors influence thyroid function. For example, TSH reportedly increases with age [22,23]. However, the present study revealed no age-related changes in TSH (data not shown). Furthermore, our results revealed a relationship between UP and hypothyroidism. UP had the highest OR of all the factors analyzed, indicating that it is a strong predictor of hypothyroidism. Although we revealed a relationship between UP and hypothyroidism, there was not a direct relationship between UP and eGFR. Frequency distribution analysis also showed that hypothyroidism increased with higher amounts of UP and that this effect was greater at higher stages of CKD. Notably, more than 99% of T3 and T4 are bound to proteins. Typically, they bind to thyroxine-binding globulin; smaller proportions of the remaining T3 and T4 are bound to other proteins, such as transthyretin, as well as preAlb and Alb in blood [24]. In children, congenital nephrotic syndrome involves the leakage of thyroid-hormone bound proteins from the blood into the urine; thus, THRT is necessary for affected children [25–27]. In adults, this mechanism has not yet been clarified, but may be similar. In specific types of CKD as minimal change nephrotic syndrome, focal segmental glomerulonephritis and membranous nephropathy, much proteinuria is often present, such that thyroid hormones might leak into the urine. To clarify the association between UP and hypothyroidism, further investigation is needed.