Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Aleksandra Sobieszczańska-Droździel ◽  
Ryszard Grenda ◽  
Beata Stefania Lipska-Ziętkiewicz ◽  
Agnieszka Korolczuk ◽  
Wioletta Jarmużek ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Neuromuscular Junctions ◽  
Fatal Outcome ◽  
Congenital Nephrotic Syndrome ◽  
Severe Phenotype ◽  
Neurodevelopmental Delay ◽  
Secondary Hypothyroidism ◽  
Gastrointestinal Problems ◽  
Pierson Syndrome

Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in the LAMB2 gene leading to the defects of β2-laminin, the protein mainly expressed in the glomerular basement membrane, ocular structures, and neuromuscular junctions. Severe complications of PIERSS lead to the fatal outcome in early childhood in majority of the cases. We report a case of 5-year-old girl with severe phenotype of PIERSS caused by biallelic functional null variants of the LAMB2 gene. Due to consequences of CNS, the patient required bilateral nephrectomy and peritoneal dialysis since early infancy. The course was additionally complicated by tubulopathy, life-threatening infections, severe hypertension, erythropoietin-resistant anemia, generalized muscular hypotonia, neurogenic bladder, profound neurodevelopmental delay, epilepsy, gastrointestinal problems, secondary hypothyroidism, and necessity of repeated ocular surgery due to microcoria, cataract, and nystagmus. Due to multidisciplinary efforts, at the age of 4 years, the kidney transplantation was possible. Currently, the renal graft has an excellent function; however, the girl presents severe neurodevelopmental delay. The report presents a unique long-term follow-up of severe PIERSS with a few new phenotypical findings. It highlights the clinical problems and challenges in management of this rare condition.

scholarly journals Pierson Syndrome Associated with Hypothyroidism and Septic Shock

2020 ◽  
Vol 20 (4) ◽  
pp. e385-389
Author(s):  
Areeba Ejaz ◽  
Meher B. Ali ◽  
Fatima Siddiqui ◽  
Mashal B. Ali ◽  
Ammarah Jamal
Keyword(s):  
Septic Shock ◽  
Nephrotic Syndrome ◽  
Neuromuscular Junctions ◽  
Normal Component ◽  
Congenital Nephrotic Syndrome ◽  
Psychomotor Retardation ◽  
Basement Membranes ◽  
High Dose ◽  
Converting Enzyme Inhibitors ◽  
Pierson Syndrome

Pierson syndrome is caused by mutations in the laminin β2 gene causing absent β2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. The mutations manifest as congenital nephrotic syndrome and microcoria which are characteristic ocular features of this disease. These mutations may also result in neurological abnormalities such as hypotonia and psychomotor retardation. We report a two-month old boy who presented to the Pediatrics Department of Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan, in 2015, with the typical features of microcoria and congenital nephrotic syndrome. The hypocalcaemia, hypoproteinaemia and probable immunocompromised state consequent to nephrotic syndrome resulted in seizures, hypothyroidism and urosepsis. Despite being treated aggressively with high dose antibiotics, ionotropic support, angiotensin-converting enzyme inhibitors, thyroxine replacement and nutritional support, the infant died due to significant multiorgan disease including renal failure and septic shock. Keywords: Pierson Syndrome; Microcoria and Congenital Nephrotic Syndrome; Congenital Microcoria; Hypothyroidism; Septic Shock; Case Report; Pakistan.

Necrotizing Enterocolitis: Long Term Complications

2019 ◽  
Vol 15 (2) ◽  
pp. 115-124 ◽  
Author(s):  
Catalina Bazacliu ◽  
Josef Neu
Keyword(s):  
Necrotizing Enterocolitis ◽  
Intestinal Failure ◽  
Failure To Thrive ◽  
Gastrointestinal Complication ◽  
Neurodevelopmental Delay ◽  
Gastrointestinal Problems ◽  
Assessment And Treatment ◽  
Long Term Prognosis

Necrotizing enterocolitis (NEC) remains the most threatening gastrointestinal complication of prematurity leading to high mortality, morbidity and cost. Common complications of NEC include neurodevelopmental delay, failure to thrive, gastrointestinal problems including strictures and adhesions, cholestasis, short bowel syndrome with or without intestinal failure that can be difficult to manage. Infants who develop NEC benefit from close follow-up for early diagnosis and treatment of complications. Those who present with severe complications such as intestinal failure benefit from a multidisciplinary approach involving careful assessment and treatment. Studies done so far are limited in providing a long-term prognosis. Here we review some of these complications. More studies with a longer follow-up period are needed to better understand the later comorbidities that develop in babies with NEC.

scholarly journals Successful long-term management of recurrent focal segmental glomerulosclerosis after kidney transplantation with costimulation blockade

2020 ◽  
Author(s):  
Thomas Mühlbacher ◽  
Kerstin Amann ◽  
Moritz Mahling ◽  
Silvio Nadalin ◽  
Nils Heyne ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Focal Segmental Glomerulosclerosis ◽  
Costimulation Blockade ◽  
Segmental Glomerulosclerosis ◽  
Remission Maintenance ◽  
Maintenance Immunosuppression ◽  
Therapeutic Concepts ◽  
Allograft Outcome

Abstract Recurrence of primary focal segmental glomerulosclerosis (FSGS) occurs in up to 50% of patients after kidney transplantation and is associated with poor allograft outcome. Novel therapeutic concepts directly target podocyte function via B7-1 with inconsistent response. We present the case of a 19 yr. old patient with recurrent primary FSGS early after living donor kidney transplantation. Plasmapheresis and rituximab did not induce remission. Repetitive abatacept administration was able to achieve partial remission. Maintenance immunosuppression was subsequently switched to a belatacept-based CNI-free immunosuppression, resulting in sustained complete remission with excellent allograft function throughout a follow-up of more than 56 months.

scholarly journals The Use of the Oxygenated AirdriveTM Machine Perfusion System in Kidney Graft Preservation: A Clinical Pilot Study

2020 ◽  
Vol 61 (6) ◽  
pp. 153-162
Author(s):  
Julia H.E. Houtzager ◽  
Sebastiaan David Hemelrijk ◽  
Ivo C.J.H. Post ◽  
Mirza M Idu ◽  
Frederike J. Bemelman ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Pilot Study ◽  
Adverse Events ◽  
Deceased Donor ◽  
Kidney Graft ◽  
Machine Perfusion ◽  
End Points ◽  
Viable Solution ◽  
Technical Failures

Background: The shortage of donor kidneys has led to the use of marginal donors, e.g., those whose kidneys are donated after circulatory death. Preservation of the graft by hypothermic machine perfusion (HMP) provides a viable solution to reduce warm ischemic damage. This pilot study was undertaken to assess the feasibility and patient safety of the AirdriveTM HMP system in clinical kidney transplantation. Methods: Five deceased-donor kidneys were preserved using the oxygenated Airdrive HMP system between arrival at the recipient center (Amsterdam UMC) and implantation in the patient. The main study end-points were adverse effects due to the use of Airdrive HMP. Secondary end-points were clinical outcomes and perfusion parameters. All events occurring during the transplantation procedure or within 1 month of follow-up were monitored. Results: Five patients were included in this pilot study. No technical failures were observed during the preservation period using the Airdrive HMP. Mean perfusion parameters were: duration 8.5 h (3–15 h), pressure 25 mm Hg (18–25 mm Hg), flow 49.77 mL/min (19–58 mL/min), resistance 0.57 mm Hg/min/mL (0.34–1.3 mm Hg/min/mL), and temperature 8.2 °C (2–13°C). Mean cold ischemia time (CIT) was 20.2 h (11–29.5 h). No adverse events or technical failures were observed during preservation and transplantation or during the 1-month follow-up. Conclusions: This pilot study showed the feasibility of the use of the Airdrive HMP system with no adverse events in clinical kidney transplantation.

Magnetic Resonance Imaging (MRI) Diagnosis of Fetal Corpus Callosum Abnormalities and Follow-up Analysis

2021 ◽  
pp. 088307382110162
Author(s):  
Xu Li ◽  
Qing Wang
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Resonance Imaging ◽  
Neurodevelopmental Delay ◽  
Mri Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Lost To Follow Up ◽  
Singleton Pregnancies

Objectives: We analyzed the magnetic resonance imaging (MRI) manifestations of fetal corpus callosum abnormalities and discussed their prognosis based on the results of postnatal follow up. Methods: One hundred fifty-five fetuses were diagnosed with corpus callosum abnormalities by MRI at our hospital from 2004 to 2019. Gesell Development Scales were used to evaluate the prognosis of corpus callosum abnormalities after birth. Results: Corpus callosum abnormalities were diagnosed in 149 fetuses from singleton pregnancies, and 6 pairs of twins, 1 in each pair is a corpus callosum abnormality. Twenty-seven cases (27/155) were lost to follow up, whereas 128 cases (128/155) were followed up. Of these, 101 cases were induced for labor, whereas 27 cases were born naturally. Among the 27 cases of corpus callosum abnormality after birth, 22 cases were from singleton pregnancies (22/27). Moreover, 1 twin from each of 5 pairs of twins (5/27) demonstrated corpus callosum abnormalities. The average Gesell Development Scale score was 87.1 in 19 cases of agenesis of the corpus callosum and 74.9 in 3 cases of hypoplasia of the corpus callosum. Among the 5 affected twins, 2 had severe neurodevelopmental delay, 2 had mild neurodevelopmental delay, and 1 was premature and died. Conclusion: The overall prognosis of agenesis of the corpus callosum is good in singleton pregnancies. Hypoplasia of the corpus callosum is often observed with other abnormalities, and the development quotient of hypoplasia of the corpus callosum is lower compared with agenesis of the corpus callosum. Corpus callosum abnormalities may occur in one twin, in whom the risk may be increased.

scholarly journals Severe hypercalcaemia early after kidney transplantation in two patients with severe secondary hyperparathyroidism previously treated with etelcalcetide

2021 ◽  
Author(s):  
Guillaume Dachy ◽  
Jean-Michel Pochet ◽  
Laura Labriola ◽  
Antoine Buemi ◽  
Valentine Gillion ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Transplantation ◽  
Significant Proportion ◽  
High Serum ◽  
Mineral And Bone Disorder ◽  
Parathyroid Adenomas ◽  
Bone Disorder ◽  
Previously Treated ◽  
Severe Hypercalcaemia

Abstract Cinacalcet and, more recently, etelcalcetide revolutionized the treatment of chronic kidney disease–mineral and bone disorder (CKD–MBD). Kidney transplant (KT) usually improves CKD–MBD. However, a significant proportion of KT recipients have high serum calcium levels, not requiring any treatment. We report two patients previously treated with etelcalcetide who developed severe (>3.3 mmol/L) hypercalcaemia in the early post-KT course, requiring parathyroidectomy. Pathological studies showed parathyroid adenomas and hyperplasia. One patient had a graft biopsy showing numerous intratubular calcium phosphate crystals. These observations should prompt pharmacovigilance studies and careful follow-up of KT recipients previously treated with etelcalcetide.

Evaluation of Thyroid Disease in Kidney Transplantation Candidates: Management and Follow-up

2009 ◽  
Vol 41 (4) ◽  
pp. 1142-1144 ◽  
Author(s):  
M. Veroux ◽  
G. Giuffrida ◽  
M. Gagliano ◽  
A. Giaquinta ◽  
T. Tallarita ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Thyroid Disease

scholarly journals Feature-tracking cardiac magnetic resonance left ventricular global longitudinal strain improves 6 months after kidney transplantation associated with reverse remodeling, not myocardial tissue characteristics

2021 ◽  
Author(s):  
Maurício Fregonesi Barbosa ◽  
Mariana Moraes Contti ◽  
Luis Gustavo Modelli de Andrade ◽  
Alejandra del Carmen Villanueva Mauricio ◽  
Sergio Marrone Ribeiro ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Cardiac Magnetic Resonance ◽  
Feature Tracking ◽  
Longitudinal Strain ◽  
Global Longitudinal Strain ◽  
Left Ventricular ◽  
Reverse Remodeling ◽  
Myocardial Tissue ◽  
Tissue Characteristics

AbstractTo determine whether left ventricular (LV) global longitudinal strain (GLS) measured by feature-tracking (FT) cardiac magnetic resonance (CMR) improves after kidney transplantation (KT) and to analyze associations between LV GLS, reverse remodeling and myocardial tissue characteristics. This is a prospective single-center cohort study of kidney transplant recipients who underwent two CMR examinations in a 3T scanner, including cines, tagging, T1 and T2 mapping. The baseline exam was done up to 10 days after transplantation and the follow-up after 6 months. Age and sex-matched healthy controls were also studied for comparison. A total of 44 patients [mean age 50 ± 11 years-old, 27 (61.4%) male] completed the two CMR exams. LV GLS improved from − 13.4% ± 3.0 at baseline to − 15.2% ± 2.7 at follow-up (p < 0.001), but remained impaired when compared with controls (− 17.7% ± 1.5, p = 0.007). We observed significant correlation between improvement in LV GLS with reductions of left ventricular mass index (r = 0.356, p = 0.018). Improvement in LV GLS paralleled improvements in LV stroke volume index (r = − 0.429, p = 0.004), ejection fraction (r = − 0.408, p = 0.006), global circumferential strain (r = 0.420, p = 0.004) and global radial strain (r = − 0.530, p = 0.002). There were no significant correlations between LV GLS, native T1 or T2 measurements (p > 0.05). In this study, we demonstrated that LV GLS measured by FT-CMR improves 6 months after KT in association with reverse remodeling, but not native T1 or T2 measurements.

Sign in / Sign up

Export Citation Format

Share Document