Cases reported "Obesity"

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1/17. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.

    Studies of mice and humans have revealed a number of genes that when mutated result in severe obesity. We have studied a unique girl with early-onset obesity and a de novo balanced translocation between chromosomes 1p22.1 and 6q16.2. Her weight gain is most likely due to excessive food intake, since measured energy expenditure was normal. We cloned and sequenced both translocation breakpoints. The translocation does not appear to affect any transcription unit on 1p, but it disrupts the SIM1 gene on 6q. SIM1 encodes a human homolog of drosophila Sim (Single-minded), a transcription factor involved in midline neurogenesis, and is a prototypical member of the bHLH-PAS (basic helix-loop-helix period, aryl hydrocarbon receptor, Single-minded) gene family. Our subject's trans- location separates the 5' promoter region and bHLH domain from the 3' PAS and putative transcriptional regulation domains. The transcriptional targets of SIM1 are not known. Mouse Sim1 is expressed in the developing kidney and central nervous system, and is essential for formation of the supraoptic and paraventricular (PVN) nuclei of the hypothalamus. Previous neuroanatomical and pharmacological studies have implicated the PVN in the regulation of body weight: PVN neurons express the melanocortin 4 receptor and appear to be physiological targets of alpha-melanocyte-stimulating hormone, which inhibits food intake. We hypothesize that haploinsufficiency of SIM1, possibly acting upstream or downstream of the melanocortin 4 receptor in the PVN, is responsible for severe obesity in our subject.
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2/17. bardet-biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

    bardet-biedl syndrome (BBS) is a group of autosomal recessive MCA/MR syndromes characterized by pigmentary retinopathy, postaxial polydactyly, hypogenitalism, obesity, and mental retardation. Five BBS loci have been identified; among them, BBS type 1 (BBS1) and type 3 (BBS3) are most common and most rare, respectively. We encountered an Iranian family that had seven affected members. All patients had a history of mild to severe obesity, but it was reversible in some patients by caloric restriction and exercise. All patients had pigmentary retinopathy, beginning as night blindness in early childhood and progressing toward severe impairment of vision by the end of the second decade. polydactyly varied in limb distribution, ranging from four-limb involvement to random involvement or even to nonaffectedness. Six of the seven patients were not mentally retarded. Although kidney anomaly or an adrenal mass was pres- ent in two patients, the fact that one patient had seven children rules out reproductive dysfunction. Linkage analysis with microsatellite markers showed that the disease in the family was assigned to a region around marker loci at 3p13-p12 (maximum lod score = 4.15 and recombination fraction straight theta = 0, at D3S1603 microsatellite marker), to which the BBS3 locus has been mapped. Haplotype analysis did not reduce the extent of the previously reported critical region of BBS3. A comparison of clinical manifestations of our patients with those of previously reported BBS3 patients did not support any type-specific phenotypes, though manifestations in our patients are similar to those in BBS3 patients of a family in Newfoundland.
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3/17. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.

    bardet-biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment. The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus a classic 'metabolic syndrome' (characterized by abdominal obesity, atherogenic dyslipidaemia, raised blood pressure, insulin resistance with or without glucose intolerance, and prothrombotic risk and proinflammatory states). One female patient (not affected by reproductive dysfunction) had three healthy offspring, while the other two patients were unmarried. Another severely affected brother died at 70 years of age; two other brothers are lean but affected by nephropathy, retinopathy, slight mental retardation, polydactyly, hypertension and thrombotic diseases, and had healthy offspring. BBS is a rather rare but severe syndrome that is often mis- or undiagnosed. Ophthalmologists, endocrinologists and nephrologists should be aware of BBS because of its adverse prognosis--early onset of blindness, associated findings of metabolic syndrome and increased vascular risk, and severe renal impairment (the most frequent cause of reduced survival and death early in life).
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4/17. Laparoscopic renal biopsy in obese children.

    Percutaneous kidney biopsy is routinely used to obtain renal tissue for histological examination. It is usually successful and has very few contraindications. We describe two children with clinical obesity in whom the percutaneous approach failed to yield renal tissue for histology. They underwent successful laparoscopic kidney biopsies that yielded adequate renal tissue for diagnosis, although the first attempt in one patient yielded renal medulla necessitating a repeat biopsy. We recommend that laparoscopic kidney biopsies should be considered in obese children when percutaneous kidney biopsies are considered impossible.
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5/17. Chronic renal failure and proteinuria in adulthood: fabry disease predominantly affecting the kidneys.

    The prognosis of fabry disease has changed since enzyme-replacement treatment was introduced. Therefore, early diagnosis is instrumental. We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of fabry disease was difficult and not established until a second family member developed renal abnormalities. A 35-year-old man was admitted because he was overweight and had hypertension, with a serum creatinine level of 1.3 mg/dL (115 micromol/L) and protein excretion of 870 mg/d. Because 1 brother, who died years ago at the age of 32 years of acute myeloid leukemia, also had chronic renal failure and proteinuria, the diagnosis of fabry disease was entertained. In the index patient, acroparesthesia, hypohidrosis, pain, angiokeratomas of the skin, and cornea verticillata suggesting fabry disease were absent. Conversely, renal biopsy showed typical globotriaosylceramide deposits, and leukocyte alpha-galactosidase (alpha-GLA) A activity was decreased. Analysis of the alpha-GLA gene showed the mutation E66K. The mutation also was found in another asymptomatic 30-year-old brother who also had chronic renal failure and proteinuria, but normal extrarenal findings. In the brother who died, fabry disease, missed at autopsy because of cancer-related findings, could be confirmed after repeated review of histological slides. mutation carriers also included the mother, a sister (both without abnormalities), and a nephew (with episodic pains in his feet). We conclude that familial chronic renal failure combined with proteinuria is suggestive of fabry disease, and such specific mutations as E66K predominantly may affect the kidneys.
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6/17. brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations.

    brachydactyly short-stature hypertension syndrome, also known as hypertension-with-brachydactyly (HTNB) syndrome, is a rare autosomal dominant disorder that was first described by Bilginturan and colleagues in 1973. Many familial cases of HTNB have been reported, but the first sporadic case of this condition was published only recently. This article describes a case of HTNB syndrome in a 16-year-old boy. Although Doppler ultrasonography of the kidneys and renal arteries showed normal findings, magnetic resonance angiography showed an aberrant right posterior inferior cerebellar artery, early bifurcation of the left renal artery, and irregularity and stenosis of the inferior dominant branch of this artery. The patient's father was in chronic renal failure of which the primary pathology was unknown. We speculate that the described case is the second documented sporadic case of HTNB syndrome. This disorder should be included in the differential diagnosis of patients with short stature and hypertension of unknown aetiology. Such individuals should be carefully examined for brachydactyly and for cerebral-cerebellar and renal vascular malformations.
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7/17. Congenital genitourinary anomalies. Is there a predilection for multiple primary malignant neoplasms?

    A case of simultaneous uterine and renal cell carcinoma in an elderly woman who had a septate vagina, double cervix, uterus didelphys, and a single kidney secondary to contralateral renal agenesis is reported. She was treated for a period of 8 months, first with pelvic irradiation followed by total abdominal hysterectomy and bilateral salpingo-oophorectomy and subsequently with heminephrectomy. Her renal function was normal postoperatively. The patient died of congestive heart failure in June 1990 after being free of carcinoma for approximately 18 years. The authors believe that this is the only case of its kind currently reported in the literature. Four of her family members died of either gastric (n = 3) or lung (n = 1) cancer, and one sister is alive with colon cancer. Only 19 proven cases of this constellation of congenital anomalies have been reported in the literature, and none have been associated with genitourinary (GU) carcinomas. There is a 50% to 70% incidence rate of genital tract anomalies in female patients with unilateral renal agenesis, secondary to the intimate association of the mesonephric and mullerian ducts. It has been suggested that the GU tract is prone to multiple primary malignant neoplasms, and there are families genetically predisposed to the development of large bowel and GU carcinomas. No conclusions can be drawn concerning the development of carcinoma in patients with congenital GU anomalies because of the small number of patients and the lack of follow-up in the literature.
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8/17. Reduced urinary insulin clearance in patient with abnormal insulinemia.

    We recently reported a new case of abnormal insulinemia with LeuA3 insulin. Herein, we measured urinary insulin clearance during oral glucose tolerance tests in proband with abnormal insulinemia (44-yr-old female), three affected family members, two unaffected family members, two other hyperinsulinemic patients with obesity, five non-insulin-dependent diabetic patients, and five normal control subjects. Urinary insulin-to-creatinine clearance ratio in the proband and her affected family members was 0.22 X 10(-3) /- 0.07 (mean /- SD, n = 4) and was markedly reduced compared with those of other groups: 1.73 X 10(-3) in two unaffected family members, 2.77 X 10(-3) in two other hyperinsulinemic patients with obesity, 2.99 X 10(-3) /- 1.48 in five non-insulin-dependent diabetic patients, and 2.54 X 10(-3) /- 0.67 in five normal control subjects. In contrast, urinary c-peptide clearance in these groups was not significantly different from controls. Binding of immunopurified insulins extracted from urine of the patients with abnormal insulinemia to guinea pig kidney membrane was slightly decreased (71% of standard insulin), in contrast with the observation that serum insulin of the proband had much less receptor-binding activity. Reverse-phase HPLC analysis of the immunopurified insulin of the proband revealed that the ratios of normal insulin to abnormal insulin were 8:3 in urine and 1:7 in serum, respectively. These results suggest that excretion of abnormal insulin in urine is much less than that of normal insulin.
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9/17. Severe hyperchloremic acidosis complicating jejunoileal bypass.

    In summary, severe hyperchloremic acidosis developed in two patients as a late complication after jejunoileal bypass for morbid obesity. This acidosis was associated with episodes of dizziness, ataxia, headache, weakness, confusion and transient loss of consciousness. Recognition of this symptom complex in the patient with a jejunoileal bypass should suggest metabolic acidosis as a complication of this surgical procedure. Bicarbonate replacement provided prompt, but temporary, improvement in the symptoms and the acidosis. Revision of the intestinal bypass was required for correction. Special studies to rule out renal tubular acidosis were performed and definitely excluded the kidney as a source of the acidosis.
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10/17. jejunoileal bypass surgery and granulomatous disease of the kidney and liver.

    A 26-year-old woman, who had undergone jejunoileal bypass surgery six years previously for obesity, had symptoms of intermittent fever, myalgia, polyarthralgia, and aseptic joint swelling. These symptoms commenced one year after her surgery and gradually grew in intensity and frequency of occurrence. The patient, observed to have moderately decreased renal function, hyperoxaluria, and circulating cryoglobulins, underwent liver and renal biopsies. Both organ specimens demonstrated granulomatous involvement, but the kidneys exhibited no evidence of oxalate deposition. The findings of circulating cryoglobulins and suppression of symptoms with doxycycline, taken collectively with the circumstances surrounding this case, suggest that the observed granulomatous disease may be due to systematically adsorbed bacterial antigen(s).
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