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B S Kaplan

Publications and source records attributed to B S Kaplan.

At least 19 recordsLinked to original sources
PubMed2001

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

Several recent studies have established an association between abnormalities of complement factor H (FH) and the development of hemolytic uremic syndrome (HUS). To identify the relative importance of mutations in FH as a cause of HUS, we have undertaken mutation screening of the FH gene in 19 familial and 31 sporadic patients with FH. Mutations were found in two familial and three sporadic patients, and these clustered in exons 18-20, a domain important for host recognition. Moreover, this study demonstrates that familial HUS is likely to be a heterogeneous condition.

Amino Acid Sequence↗
PubMed2001

HUS or not HUS?

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Diagnosis, Differential↗
PubMed2000

Wegener granulomatosis--an atypical case.

An unusual sequence of the clinical manifestations of microvascular disease is described in a 15 year-old girl. She initially presented with acute renal failure caused by a crescentic glomerulonephritis associated with positive tests for MPO-ANCA. Eighteen months later she had pulmonary hemorrhage and respiratory failure. An open lung biopsy showed granulomas that were diagnostic for Wegener granulomatosis. We discuss the diagnostic dilemmas faced in attempts to distinguish infective causes of pulmonary granulomas, such as tuberculosis or fungi, from granulomas associated with vasculitis, in a patient previously treated with immunosuppressive therapy.

Adolescent↗
PubMed2000

Hemolytic uremic syndrome associated with Denys-Drash syndrome.

The Denys-Drash syndrome is defined by the occurrence of combinations of pseudohermaphroditism, nephrotic syndrome with diffuse mesangial sclerosis, Wilms' tumor, and constitutional mutations in the WT1 suppressor gene. Most patients develop end-stage renal failure. Atypical hemolytic uremic syndrome (HUS) is defined by onset of acute hemolytic anemia with fragmented erythrocytes, thrombocytopenia, and renal failure in the absence of a gastrointestinal prodromal illness of bloody diarrhea. The purpose of this report is to describe the occurrence of features of atypical HUS and Denys-Drash syndrome in two African-American boys aged 13 and 16 months. Each had nephrotic syndrome, diffuse mesangial sclerosis, and WT1 point mutations. Both had grade III hypospadias and undescended testes. They had normal serum creatinine concentrations and hematology a month before presenting with HUS. Stool cultures for Escherichia coli O157:H7 were negative. Each patient has been transplanted with cadaver kidneys without recurrence of HUS.

Base Sequence↗
PubMed2000

Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.

Abnormalities, Multiple↗
PubMed2000

Peripheral gangrene complicating idiopathic and recessive hemolytic uremic syndromes.

Three patients with hemolytic uremic syndrome (HUS) developed peripheral gangrene. Bilateral carotid artery thromboses occurred in one of these patients after recovery from HUS. One patient had a long history of juvenile rheumatoid arthritis. In the second patient, a flu-like illness preceded the onset of HUS. The third was one of two sisters, with the HUS appearing more than 1 year apart. None had evidence of disseminated intravascular coagulation or infection with Streptococcus pneumoniae. The patient with rheumatoid arthritis had renal cortical necrosis but recovered moderate renal function after treatment with dialysis and plasmapheresis for 6 months. The child with a genetic form of HUS died of renal failure and had massive cortical necrosis and vascular thrombosis at autopsy. This is the first report of peripheral gangrene in children with idiopathic HUS and autosomal recessive HUS.

Arthritis, Rheumatoid↗
PubMed2000

Additional findings in Galloway-Mowat syndrome.

The Galloway-Mowat syndrome consists of early onset nephrotic syndrome and central nervous system anomalies. Additional anomalies including hiatal hernias have been reported but are not consistently present. Various renal histopathologic changes have been reported and it is unclear whether these represent heterogeneity within the syndrome or different stages of disease progression. We describe a patient with Galloway-Mowat syndrome who had a renal biopsy at 9 months that showed minimal changes. She died at 42 months at which time the renal autopsy finding was diffuse mesangial sclerosis. Neuropathologic findings included a small brain with cerebral dysplasia, leukomalacia and absence of the cerebellar granular layer without leptomeningeal heterotopia. The autopsy also revealed bilateral ovarian agenesis. This is the first report of serial histopathologic changes and ovarian agenesis in Galloway-Mowat syndrome.

Brain↗
PubMed2000

Genitourinary complications of systemic lupus erythematosus.

A 14-year-old African-American girl was diagnosed with antiphospholipid-positive systemic lupus erythematosus (SLE) in July 1994. The course was complicated by nephrotic syndrome, sepsis, hemolytic anemia, acute renal failure, saphenous vein thrombosis, cutaneous vasculitis, mesenteric vasculitis, appendicitis, hemorrhagic cystitis, and avascular necrosis of the hips. In August 1997, she developed ovarian and fallopian tube complications secondary to SLE. Genitourinary complications of SLE, however, are uncommon, and ovarian vasculitis has not previously been reported as a complication of SLE. This report describes the course of an adolescent patient with SLE and focuses specifically on her genitourinary complications.

Acute Kidney Injury↗
PubMed2000

Autosomal dominant hemolytic uremic syndrome: variable phenotypes and transplant results.

Autosomal dominant hemolytic uremic syndrome (ADHUS) is a rare disorder with a poor prognosis that was considered to present mainly in adults. Recurrent episodes of ADHUS were also thought to be uncommon. However, increasing reports suggest that children are often affected, that recurrent episodes may occur pretransplantation, and that post-transplant recurrences occur in about 50% of cases. We describe the occurrence of ADHUS in two unrelated families with different outcomes. It is apparent that there are several types of ADHUS (with and without serum complement abnormalities) and that there may be variable expression of the phenotype. There was variable penetration of HUS in four (possibly five) adults and two children in four generations of one kindred. There was also one definite unaffected carrier. Two patients had successful renal transplants without recurrences; the HUS recurred in a third patient soon after transplantation. In a second family, the father had three episodes of HUS at 18, 26 and 29 years of age; his son had one episode of HUS at 5 years of age. Both recovered completely. Evaluation of these patients, previous reports, and follow-up contacts of previous reports suggests that post-transplant recurrence of ADHUS is more common than previously reported and may not be prevented by prior nephrectomy of native kidneys.

Adult↗
PubMed2000

In defense of altruistic kidney donation by strangers.

A shortage of cadaveric donor kidneys has created waiting lists for patients on chronic dialysis. Despite many ethical issues, donor kidneys are obtained from cadavers, first-degree living relatives, second-degree relatives (uncles, aunts), emotionally related persons such as spouses, and non-genetic altruistic donors who have a close relationship with the recipient. Most centers do not accept kidneys from minors, persons who have no genetic or personal relationship with the recipient, organs offered by altruistic strangers, or those that are purchased. The pros and cons of using kidneys from donors who are altruistic strangers (donors who have no genetic or personal relationship with the recipient) are reviewed. It may seem that organ acquisition for renal transplantation has moved down a slippery slope from cadaver donors to living non-related but emotionally related donors. However, it can also be argued that the approach to obtaining kidneys has evolved with improvements in safety to the donor and an increasing shortage of organs. It may also be argued that the approach should evolve from a paternalistic physician-centered role to a position in which the patient has more autonomy in deciding whether or not to accept a kidney from an altruistic donor.

Altruism↗
PubMed1999

Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.

Abnormalities, Multiple↗
PubMed1999

Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.

We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or may reflect one of at least three syndromes: Galloway-Mowat, a second syndrome of microcephaly, nephrotic syndrome and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental delay, and spondylorhizomelic short stature.

Developmental Disabilities↗