Early nephrectomy in neonates with symptomatic autosomal recessive polycystic kidney disease.

INTRODUCTION: Autosomal recessive polycystic kidney disease (ARPKD) is a rare cause of renal failure with a highly variable clinical course. Patients who are symptomatic early in life frequently require early nephrectomy and peritoneal dialysis. In these patients there are little data to guide clinicians on whether to select unilateral nephrectomy or bilateral nephrectomy at the initial operative intervention. We review our experience with this disease process. METHODS: A retrospective review was performed of 11 patients at our institution with ARPKD symptomatic within the first month of life. Charts were reviewed for relevant clinical data, and patients were divided into groups based on undergoing either unilateral or bilateral nephrectomy at their initial intervention. The decision for unilateral versus bilateral nephrectomy was decided by the clinical team without any available guidelines. RESULTS: Of the 11 patients reviewed, two patients died within the first two weeks from other complications. The remaining 9 all required nephrectomy, with 5 undergoing synchronous bilateral nephrectomy, and 4 undergoing initial unilateral nephrectomy. All four patients required removal of their contralateral kidney, a median of 25.5 days later. There was no difference in mortality, ventilator free days, or time to full feeds between the two groups, although the group undergoing initial unilateral nephrectomy had more TPN days than their counterparts (28 vs 17 days, p = 0.014). CONCLUSIONS: In our cohort, there were few significant differences between the groups based on choice of initial unilateral or bilateral nephrectomy, and all children ultimately required removal of both kidneys. These data suggest that anesthetic exposures and other clinical outcomes might be optimized by initial bilateral nephrectomy. LEVEL OF EVIDENCE: III.

Simultaneous laparoscopic left lateral sectionectomy and nephrectomy in the same living donor: The first case report.

With the presence of organ shortage, living donors remain important sources of grafts, especially for pediatric recipients. Laparoscopic nephrectomy has become the gold standard for living donors. Additionally, laparoscopic partial liver procurement in living donors has proven its safety and feasibility in the latest studies. We have combined both approaches to perform a simultaneous liver-kidney transplantation in a pediatric patient from the same living donor. Our experience of laparoscopic left lateral sectionectomy and laparoscopic nephrectomy in living donors was the basis for adapting to this procedure. A 29-year-old mother was an ABO-incompatible (ABOi) donor for the left lateral section (LLS) of the liver and left kidney for her 2-year-old son. The postoperative period was uneventful. Two sessions of plasmapheresis and rituximab induction were necessary to prepare for ABOi transplantation. The donor and recipient were discharged on postoperative days 5 and 28, respectively. Simultaneous laparoscopic left lateral sectionectomy and nephrectomy in the same living donor is feasible for transplantation from the parent to the child with advanced laparoscopic expertise.

[Early bilateral nephrectomy in neonatal autosomal recessive polycystic kidney disease : Improved prognosis or unnecessary effort?] / Frühe beidseitige Nephrektomie bei Säuglingen mit pränataler ARPKD : Prognoseverbesserung oder unnötiger Aufwand?

BACKGROUND: Neonatal autosomal recessive polycystic kidney disease (ARPKD) is associated with giant kidneys, lung hypoplasia, pulmonal hypertension, and end-stage renal failure. Depending on the study, mortality is reported to range between 20 and 80%. OBJECTIVES: Does bilateral nephrectomy improve survival? PATIENTS AND METHODS: Between 2010 and 2016, we treated 7 children with prenatally diagnosed ARPKD. All had a planned delivery by cesarean section. After birth, oscillated ventilation with nitrogen enrichment was initiated to achieve maximum oxygenation and to decrease pumonary hypertension. All children had bilateral massive kidney hyperplasia (length 13-16 cm). RESULTS: Nephrectomy on one side was performed within 72 h together with placement of a peritoneal dialysis catheter in the intensive care unit. Contralateral nephrectomy was performed after 1-2 weeks when the child was stabilized by dialysis. In 2 children, kidney transplantation has already been performed and they are doing fine. One child died after 10 months due to infection. The other children are stable on home peritoneal dialysis awaiting transplantation. CONCLUSIONS: Early bilateral nephrectomy in neonatal ARPKD is feasible, but requires distinctive care at a pediatric intensive care unit and a high amount of organizational efforts to treat these children adequately in the first few days. In our experience, the procedure is a promising approach to improve ventilation and enable dialysis. However, kidney transplantation, best from a living donor, is required within the first years of life.

Successful third renal transplantation in a child with an occluded inferior vena cava: A novel technique to use the venous interposition between the transplant renal vein and the infrahepatic inferior vena cava.

A girl aged 11 years and 3 months with occlusion of the inferior vena cava had experienced two renal transplant graft failures since birth. The third renal transplant from a live donor was carried out. Preoperative evaluation showed that the arteries from the right common to the right external iliac artery were absent, and the ilio-caval vein was occluded below the level of the renal vein. The donor's renal artery was anastomosed to the aorta. The donor's ovarian and large saphenous veins were used to extend the transplant renal vein to the recipient's patent inferior vena cava. The present report concludes that the extension of a short donor renal vein using other donor veins is a viable therapeutic option for pediatric patients with vascular occlusions.

Longterm renal allograft survival after sequential liver-kidney transplantation from a single living donor.

Combined liver-kidney transplantation (CLKT) is well established as a definitive therapy with the potential to provide complete recovery for certain liver-kidney diseases, although the results might be contingent on the cause of transplantation. The purposes of the present study were to review the longterm outcome of renal allografts in CLKT patients from single living donors and to investigate the beneficial factors, compared with solitary renal transplantation. Thirteen patients underwent sequential liver transplantation (LT) and kidney transplantation (KT) from single living donors. The indications for KT were oxaluria (n = 7), autosomal recessive polycystic disease (n = 3), and others (n = 3). The same immunosuppressive regimen used after LT was also used after KT. KT was performed between 1.7 and 47.0 months after the LT. The overall patient survival rate was 92.3% at 10 years. In 12 of the 13 surviving patients, the renal allografts were found to be functioning in 11 patients after a mean follow-up period of 103.6 months. The death-censored renal allograft survival rate at 10 years was 100%, which was better than that of KT alone (84.9%) in Japan. Immunological protection conferred by the preceding liver allograft may have contributed to the longterm outcomes of the renal allografts. In addition, the donation of double organs from a single living and related donor may have a favorable impact on the graft survival rate. In the future, investigations of factors affecting the longterm outcome of renal allografts, including details of the involvement of de novo donor-specific antibody, will be needed. Liver Transplantation 23 315-323 2017 AASLD.

Laparoscopic-assisted retroperitoneal nephrectomy in autosomal recessive polycystic kidney disease.

OBJECTIVE: Autosomal recessive polycystic kidney disease (ARPKD) occurs in 1 in 20 000 live births. A mortality rate of 30-40% is reported, generally relating to pulmonary hypoplasia, and 60% require renal replacement therapy (RRT) by 10 years. In the neonatal period, the large kidneys can cause significant mass effect, with the need for prolonged respiratory support and difficulty in establishing feeds. Early postnatal peritoneal dialysis (PD) is required in up to 25%, and dialysis efficiency can similarly be compromised. In these situations, unilateral or bilateral nephrectomy may be recommended. All previous reports of nephrectomy in ARPKD have described an open approach, generally via a transperitoneal route, with the risk of compromising future PD. Here, we demonstrate laparoscopic-assisted retroperitoneal nephrectomy (LARN), which has been used successfully in two patients. PATIENTS AND RESULTS: Case 1: a 37/40, 3.2 kg female infant. She was extubated to CPAP d6 and commenced haemodialysis d7. Left LARN was performed d34 and CPAP was discontinued within 48 h. Right LARN was performed d49 as it was felt PD still would not be possible and PD was then successfully commenced d62. She unfortunately died aged 11/12. Case 2: a term 3.5 kg male infant. He was ventilator-dependent and required PD catheter insertion on d1. PD was discontinued for leakage d7, and haemodialysis commenced. Left LARN was performed d18. He remained ventilator-dependent and given this, and the PD leakage, right LARN was performed d20. He was extubated 48 h later, and PD successfully reintroduced after 1 week. He is currently aged 4/12. CONCLUSION: LARN is achievable in ARPKD. Although unilateral LARN may be sufficient, in these cases bilateral LARN was required. Relief of the mass effect allowed respiratory support to be discontinued and peritoneal dialysis to be established in both children.

Long-Term Follow-Up of Kidney Transplant Recipients With Polycystic Kidney Disease.

OBJECTIVES: Patients with polycystic kidney disease are candidates for kidney transplant. We report the results of our single center study of 250 first transplant recipients with polycystic kidney disease (autosomal dominant [64%], medullary cystic [16%], autosomal recessive [6%], and nonspecified [14%]). MATERIALS AND METHODS: Patient groups were divided and analyzed according to the origin of the graft (deceased donor or living donor). We also analyzed demographic data of donors and recipients, waiting time, duration of dialysis, transfusion, nephrectomy, hospitalization, morbidities, and graft and patient survival. The study was approved by the Ethical Review Committee of the Institute. All of the protocols conformed to the ethical guidelines of the 1975 Helsinki Declaration. RESULTS: The deceased-donor group comprised 79% and the living-donor group comprised 21% of the cases. Nephrectomy was performed on 21% of the recipients. The deceased-donor group showed significantly higher values than the living-donor group regarding rate of hemodialysis (82% vs 68%), duration of dialysis (1571 vs 1002 days), waiting time (1129 vs 33 days), and blood transfusions (45% vs 27%). In deceased-donor versus living-donor transplant recipients, surgical complications included arterial stenosis (1% vs 0%), venous thrombosis (1% vs 0%), urine leakage (0.5% vs 1.9%), ureteral stenosis (0.5% vs 0%), reflux (0% vs 1.9%), lymphocele (11.7% vs 8.1%), and hernia (5.2% vs 8.1%), with no statistically significant differences shown between the groups. The living-donor group had graft and patient survival rates as high as the deceased-donor group. CONCLUSIONS: The low rate of morbidity and excellent survival rates make kidney transplant an excellent option for patients with polycystic kidney disease. Although fear of future appearance of polycystic kidney disease may reduce the rate of related living donors, our study showed that graft and patient survival rates in the living-donor group were as high as in the deceased-donor group.

Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results.

CLKT and sequential KALT are decided on a case-by-case basis in children for special indications such as ARPKD or PH1. We report on 21 children who underwent CLKT or KALT at our hospital between 1998 and 2013. Eleven children were diagnosed with PH1 and six with ARPKD. Other diagnosis were Joubert syndrome (n = 1), nephronophthisis (n = 1), CF (n = 1), and hepatocellular carcinoma (n = 1). Children (12 males, nine females) were aged 7.8 ± 6.2 yr (range, 10 months to 18 yr) at time of transplantation. Average wait time was 1.9 ± 0.9 yr (range, four months to 2.3 yr). Fifteen patients received dialysis prior to transplantation. In PH1 patients, four children received CLKT, five received KALT, and two infants have received only an LTx, whereas all six patients with ARPKD received CLKT. In patients with other indications, CLKT was performed in three cases and KALT in one girl. Cumulative 10-yr survival of all 21 patients was 78.4%. At the time of transfer into adult care, 13 patients retained stable liver and kidney function. Regardless the underlying diagnosis, CLKT and KALT can be performed in children with good surgical outcomes and long-term survival.

Liver disease in autosomal recessive polycystic kidney disease: clinical characteristics and management in relation to renal failure.

OBJECTIVES: We correlated liver and kidney manifestations in a national cohort of patients with autosomal recessive polycystic kidney disease (ARPKD). METHODS: A total of 27 consecutive patients with ARPKD were included. Hepatobiliary disorders were comparatively evaluated in 2 groups: children in group 1 (n = 10) displayed renal failure as infants and those in group 2 (n = 17) had normal kidney function through the first year of life. RESULTS: Median follow-up time was 10.6 (range, 0.4-40) years. Portal hypertension was diagnosed in 13 patients (48%) at the median age 5.0 (1.5-27.9) years. Esophageal varices developed in 8 patients (30%) at age 8.0 (2.1-11.9) years; 4 patients (15%) had variceal bleeding, and hypersplenism/splenomegaly occurred in 52%, similarly in both groups. Biliary tract dilatation was detected at 2.8 years in group 1 and at 7.9 years in group 2, significantly more frequently in group 1 (60% vs 18%, P = 0.039), causing cholangitis in 2 (20%) versus none in group 2 (P = 0.055). A total of 10 patients (37%) underwent cadaveric liver transplantation (LT) at a median age of 6.6 (1.0-20.0) years. In 1 patient LT was performed because of hepatoblastoma. Nine of these were combined liver-kidney transplantations (CLKT). Patients in group 1 required LT earlier (4.1 years vs 18.2 years, P = 0.017) and more frequently (70% vs 18%, P = 0.01). Overall survival beyond neonatal period was 85%. Two patients died because of infectious complications after CLKT, and 1 patient because of recurrent hepatoblastoma. CONCLUSIONS: Although correlation of renal and liver manifestations was variable, biliary dilatation was associated with early renal failure. CLKT may be a treatment for patients with ARPKD with marked hepatobiliary complications.

Solitary erythematous, tender plaque of the heel in a young infant.

Calcinosis cutis is a rare disorder resulting from the precipitation and deposition of insoluble calcium and phosphate salts (hydroxyapatite crystals) in the dermis and subcutaneous tissue. It is generally divided into four main groups on the basis of etiology and pathogenesis. Clinical presentation of cutaneous calcinosis cutis varies according to the diagnosis and the underlying process. We report a case of calcinosis cutis of the heel in which both the extravasation of a calcium gluconate infusion and renal failure could have promoted the development of calcinosis cutis.

Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.

In ARPKD, mutations in the PKHD1 gene lead to remodeling of the kidneys and liver. These may result in progressive liver fibrosis with portal hypertension requiring combined liver and kidney transplantation (CLKT). There is currently no consensus on the indication for CLKT and data on long-term outcomes are scarce. We analyzed in detail the pretransplant liver symptomatology, laboratory and ultrasound data, histological studies, and genotypes in eight patients undergoing CLKT. The median age was 10.1 years (range 1.7-16) and median follow-up was 4.6 years (range 1.1-8.9). All patients had clinical signs of portal hypertension and abnormal ultrasound findings. Congenital hepatic fibrosis was present in all pretransplant biopsies (6 out of 8 patients) and in all explanted livers. All patients survived; liver and kidney graft survival was 72% and 88%, respectively. Liver and kidney function were stable in all patients with a median eGFR of 70 ml/min/1.73 m² (range 45-108 ml/min/1.73 m²). Height-SDS improved significantly after 12, 24, and 36 months (P = 0.016, 0.022 and 0.018 respectively). The indication for CLKT remains challenging and controversial. A favorable outcome for patients with ARPKD can be achieved by using the degree of portal hypertension, longitudinal ultrasound examinations, and preoperative liver histology as parameters for CLKT.

Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis.

BACKGROUND AND OBJECTIVE: Congenital hepatic fibrosis (CHF) and Caroli syndrome are frequently associated with renal cystic diseases. They have a variable clinical course, and the natural history is not well defined despite molecular advances. Our study describes the clinical manifestations and long-term outcome in children with this disorder. METHODS: A retrospective case review of children with CHF at a single centre diagnosed on the basis of clinical features, radiological and endoscopic evidence of portal hypertension (PHT), and compatible histopathological findings. Children were categorised based on hepatic phenotype-group 1 (Caroli syndrome) and group 2 (CHF). Hepatobiliary as well as renal manifestations were recorded at presentation, and their evolution followed up until transplant or last follow-up. RESULTS: There were 40 children (22 boys) with a median age of 1.3 years at clinical presentation. Fourteen of 40 (35%) children presented in the neonatal period with primarily renal disease, of whom 11 (78%) had Caroli syndrome (P = 0.02). Significant PHT with oesophageal varices was seen in 86%, with no difference in the incidence of gastrointestinal bleeding and varices between Caroli syndrome and CHF. Cholangitis developed in 10 of 40 (25%) and was more common in the Caroli syndrome group (P = 0.009). A higher proportion of children with Caroli syndrome developed chronic kidney disease (CKD) stage 3 and above as compared with CHF (85% vs 42%; P = 0.007). Twelve of 21 (57%) and 8 of 19 (42%) children in the Caroli syndrome and CHF groups required either combined liver-kidney or isolated liver transplant, with the most common indication for renal transplantation being end-stage renal disease (CKD5d) with or without advanced PHT or cholangitis. All 14 (100%) children with neonatal presentation developed CKD5d and required combined liver-kidney transplant before 14 years of age, whereas 77% of children presenting beyond the neonatal period survived without liver-kidney transplant (P < 0.001). Neonatal presentation was the best predictor of the need for transplant. CONCLUSIONS: Caroli syndrome is more likely to present in the neonatal period and these patients are more likely to develop CKD5d. CKD stage 3 or above with recurrent cholangitis is more common in Caroli syndrome presenting beyond the neonatal period and adds to the significant morbidity in these patients. Children presenting in the neonatal period have a more severe phenotype and should be considered early for combined liver-kidney transplant.

Pediatric liver transplantation for fibropolycystic liver disease.

Fibropolycystic liver disease includes CHF, Caroli's syndrome, and Caroli's disease. Patients with Caroli's disease and Caroli's syndrome have an increased risk of recurrent cholangitis, intrahepatic calculi, biliary cirrhosis, and cholangiocarcinoma. The aim of this study was to examine the post-transplantation outcomes of children with fibropolycystic liver disease. Of the 158 children transplanted at Seoul National University Hospital, there were four patients with Caroli's syndrome, two patients with CHF, and one patient with Caroli's disease. One patient underwent combined liver/kidney transplantation. Associated renal manifestations included ARPKD in three children and nephronophthisis in one child. The indications for LT were recurrent cholangitis, decompensated cirrhosis, and refractory complications of portal hypertension. Both graft and patient survival rates were 100% at a median follow-up period of two yr after LT. Three children with growth failure achieved catch-up growth after LT. In three patients with ARPKD, mean serum creatinine levels increased from 0.53 mg/dL at the time of LT to 0.91 mg/dL at the last follow-up (p = 0.01). LT is an excellent option for children with complications from fibropolycystic liver disease. Renal function should be monitored cautiously after LT in the patients with ARPKD.

Koilocytes in urinary cytology in a patient with kidney transplant.

We are reporting the case of a 17-year-old girl with kidney transplant under immunosuppressive treatment. Evidences of transplant malfunction led to urinary cytology to rule out BKV infection. The smears showed the presence of koilocytes. Gynecologic examination revealed numerous condylomatous lesions in the vulva, vagina, and cervix. PAP smears showed cells with moderate to severe koilocytic dysplasia. PCR performed on material retrieved from both the smears showed HPV18 DNA sequences. Koilocytes have rarely been documented in urinary cytologic examination. Since post-transplant immunosuppressed patients are prone to develop florid and extensive HPV infections, urinary cytology may prove useful for routine search of cells with this virus cytopathic effect.

Selective embolization of large symptomatic iatrogenic renal transplant arteriovenous fistula.

We report on the successful treatment of hypertension by occlusion of a large iatrogenic renal transplant arteriovenous fistula using detachable embolization coils with concomitant flow reduction by occlusion balloon in two patients.

Unilateral nephrectomy as palliative therapy in an infant with autosomal recessive polycystic kidney disease.

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) implies a dire prognosis. Neonates affected by the more severe variants of ARPKD suffer respiratory failure caused by massive kidneys that restrict diaphragmatic expansion and result in pulmonary hypoplasia. Afflicted infants who survive the neonatal period and gain adequate respiratory function may subsequently suffer from an inability to tolerate enteral nutrition due to abdominal compression from the massive kidney and the systemic effects of renal compromise. Palliative unilateral or bilateral nephrectomy may be considered in rare instances to facilitate pulmonary expansion and gastrointestinal function. We report on an infant with severe ARPKD who was able to tolerate enteral nutrition only after left nephrectomy.

An atypical course of Caroli's disease in a renal transplant patient--case report and review of the literature.

This is a rare case of Caroli's disease, diagnosed following renal transplantation in a patient with autosomal recessive polycystic kidneys. Despite advanced cystic transformation of the biliary tree with striking architectural changes, there was no evidence of portal hypertension or hepatic fibrosis. Moreover, the patient did not suffer a single episode of cholangitis, a most interesting feature of this case. Her clinical course was punctuated by repeated episodes of gastrointestinal and urinary tract infections with resistant organisms; but fortunately, she had no evidence of septicemia. Recurrent Salmonella gastroenteritis indicated a chronic carrier state with the dilated bile ducts possibly acting as a potential reservoir. This has significant implications considering the immune suppression associated with renal transplantation. In general, Caroli's disease is rare. Therefore, a high index of suspicion for the diagnosis of Caroli's disease is warranted especially in patients with ARPKD or ADPKD. Once confirmed, affected patients with end-stage renal disease such as our patient, should ideally undergo combined liver-kidney transplantation.

Acute visual loss in a child with autosomal recessive polycystic kidney disease: case report and review of the literature.

Acute visual loss secondary to ischemic optic neuropathy in children is extremely rare. The causes are usually hypotension or anemia. We describe the clinical course of a 9-year-old boy with a functional renal transplant who presented to the emergency room hemodynamically stable after waking up with complete bilateral loss of vision (no light perception). Examination showed that he had suffered massive nocturnal blood loss from esophageal varices secondary to portal hypertension. The patient's end-stage renal disease was secondary to autosomal recessive polycystic kidney disease (ARPKD), an entity comprised of renal cysts and hepatic fibrosis. Ophthalmologic findings in ARPKD are rarely cited in the literature. A literature search revealed 3 other cases of sudden visual loss reported in nonophthalmologic journals in patients with ARPKD. Funduscopic examination showed bilateral optic nerve head pallor and swelling with associated flame hemorrhages. The fact that this patient already had mildly pale nerves on presentation, along with hemodynamically compensated blood pressure and pulse, suggested chronic as well as acute ischemia. Based on our findings and other reported cases in the literature, ophthalmologic examinations may be indicated in all patients with ARPKD.