scholarly journals Episodic Hematuria in a Young Boy - Do Not Miss Familial Idiopathic Hypercalciuria

2019 ◽  
Vol I (1) ◽  
pp. 1-2
Author(s):  
Vinay Rathore
Keyword(s):  
Family History ◽  
Renal Tubular Acidosis ◽  
Renal Pelvis ◽  
Index Case ◽  
Family Members ◽  
Renal Stones ◽  
Idiopathic Hypercalciuria ◽  
Adequate Hydration ◽  
History Of ◽  
Renal Tubular

Familial hypercalcemia is an important cause of episodic hematuria in children and can lead to nephrolithiasis if untreated. Elucidation of proper family history and screening of family members can help in clinching the diagnosis. An 8-year-old boy presented with episodic painless hematuria for 3 years, with a history of small renal stones in parents, which was managed conservatively. Ultrasound showed concretions in the renal pelvis, and urinalysis revealed hypercalciuria in the absence of renal tubular acidosis in index case as well as parents. He was started on thiazides, oral citrate supplementation, and adequate hydration, following which he became asymptomatic.

P0058THE ROLE OF GENETICS IN INCOMPLETE DISTAL RENAL TUBULAR ACIDOSIS IN NEPHROLITHIASIS

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Viola D'Ambrosio ◽  
Eugenio Sangiorgi ◽  
Bernhard Hess ◽  
Giovanni Gambaro ◽  
Pietro Manuel Ferraro
Keyword(s):  
Metabolic Acidosis ◽  
Genetic Testing ◽  
Family History ◽  
Renal Tubular Acidosis ◽  
Kidney Stones ◽  
Distal Renal Tubular Acidosis ◽  
Urinary Acidification ◽  
Stone Formers ◽  
History Of ◽  
Renal Tubular

Abstract Background and Aims Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in a hyperchloremic non-anion gap metabolic acidosis, hypokalemia and inappropriately elevated urine pH. If not treated, this chronic condition eventually leads to nephrocalcinosis and recurrent nephrolithiasis, impaired renal function and bone demineralization due to reabsorption of bicarbonate and phosphate complexed with calcium from the bone as a buffer for metabolic acidosis. Distal RTA is therefore a well-defined entity that can be diagnosed by genetic testing of five genes known to be disease-causative (ATPV1B1 and ATPV0A4, FOXi1, SLC4A1 and WDR72). Incomplete distal renal tubular acidosis (idRTA) is defined as impaired urinary acidification that does not lead to overt metabolic acidosis and therefore can be diagnosed if patients fail to adequately acidify urine after an ammonium chloride (NH4Cl) challenge or other acid load tests. It is observed in 10-20% of calcium stone formers. It is still uncertain whether idRTA represents a distinct entity or it is part of the dRTA spectrum and whether it is caused by mutations in the same genes of overt dRTA. Heterozygous ATP6V1B1 pathogenic variants have been linked to idRTA, as well as mutations in SLC4A1. Method In this cross-sectional study we investigated a group of 23 stone formers whose clinical features were suspicious of idRTA: a history of nephrolithiasis or nephrocalcinosis with morning urinary pH > 5.8 in the absence of overt metabolic acidosis. They therefore underwent a simplified NH4Cl challenge and were found to have impaired urinary acidification ability. These patients were then analyzed by genetic testing with sequencing of 4 genes: SLC4A1, ATP6V1B1, ATP6V0A4 and FOXi1. Results Two unrelated individuals were found to have mutations in SLC4A1: 2 different variants in heterozygosis that had never been described before. The first patient was a 47-year old man, recurrent stone former (mainly apatite, but also some calcium oxalate), with hypercalciuria but normal bone mineral density (BMD). His family history revealed 1 uncle with kidney stones. The second patient was a 56-year old woman with a diagnosis of osteogenesis imperfecta, a history of reduced BMD and severe restrictive ventilation disorder and passed 1 stone (35% apatite, 65% CaOx). She was found to have bilateral nephrocalcinosis and hypocitraturia. Her family history revealed a sister with kidney stones. Conversely, 21 patients did not show any mutations for the genes sequenced, leading to a prevalence of genetic mutations of 8.7%. This is a much lower figure compared with overt dRTA, in which only 30% of patients with a clinical diagnosis of hereditary dRTA have no identified causative mutations in the currently known genes. Conclusion This suggests the involvement of other genes (WDR72 or others) or non-genetic tubular dysfunction in the pathogenesis of idRTA in stone formers.

scholarly journals HTLV-1 infection is associated with a history of active tuberculosis among family members of HTLV-1-infected patients in Peru

2007 ◽  
Vol 136 (8) ◽  
pp. 1076-1083 ◽  
Author(s):  
K. VERDONCK ◽  
E. GONZÁLEZ ◽  
W. SCHROOTEN ◽  
G. VANHAM ◽  
E. GOTUZZO
Keyword(s):  
Multivariate Analysis ◽  
Index Case ◽  
Family Members ◽  
Active Tuberculosis ◽  
T Lymphotropic Virus ◽  
Lifetime History ◽  
History Of ◽  
Index Cases

SUMMARYThe purpose of this study was to assess the association between human T-lymphotropic virus 1 (HTLV-1) and a lifetime history of active tuberculosis (TB) among relatives of HTLV-1-infected patients. We reviewed clinical charts of all relatives of HTLV-1-infected index cases who attended our institute in Lima from 1990–2004. The data of 1233 relatives was analysed; 394 (32·0%) were HTLV-1 positive. Eighty-one subjects (6·6%) had a history of active TB, including 45/394 (11·4%) HTLV-1-positive and 36/839 (4·3%) HTLV-1-negative relatives (P<0·001). On multivariate analysis, three factors were associated with TB history: HTLV-1 infection (adjusted OR 2·5, 95% CI 1·6–3·9), age (adjusted OR 1·3, 95% CI 1·1–1·5 per 10-year age increase) and relation to the index case (adjusted OR 2·6, 95% CI 1·3–5·1, for siblingsvs. spouses of index cases). In conclusion, HTLV-1 infection may increase the susceptibility to active TB. In populations where both infections are frequent, such an association could affect the dynamics of TB.

632 Family History of Children Diagnosed with Obstructive Sleep Apnea

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A248-A248
Author(s):  
Kristi Porterfield-Pruss ◽  
Denise Willis ◽  
Beverly Spray ◽  
Supriya Jambhekar
Keyword(s):  
Family History ◽  
Family Members ◽  
Biological Father ◽  
Medical Problems ◽  
Obstructive Sleep ◽  
Familial Association ◽  
History Of ◽  
The Mean ◽  
Relationship Of ◽  
The Relationship

Abstract Introduction Limited evidence suggests a familial association of OSA. It is not known how often children who require positive airway pressure (PAP) devices have a family member with OSA or that requires PAP. It is felt that PAP adherence in children is affected by PAP adherence in parents. We wanted to explore the relationship of OSA in children requiring PAP to OSA in immediate family members as well as the association of obesity and adherence between children and family members. Methods Caregivers of children who utilize PAP devices at home were invited to complete an electronic questionnaire regarding family history of OSA. Descriptive statistics were utilized to summarize results. Results The study was completed by 75 participants. The majority of children were male (64%, 48/75), black (47%, 35/75) and non-Hispanic (88%, 66/75). The mean age was 11.8 years (median 13) and mean BMI was 32.8 (median 29.8). The mean AHI on the diagnostic polysomnogram was 28.4 events per hour (median 15.3). Mean adherence to PAP &gt; 4 hours per night was 56.5 (Median 68.2). Most, 87% (65/75), have other underlying medical problems. Twenty-four percent (18/75) have a biological father with OSA of whom 61% (11/18) are considered moderately/extremely obese. Of mothers, 13% (10/75) have OSA and 70% (7/10) are obese. Overall, 29% (22/75) had either a paternal (11%, 8/75) or maternal (19%, 14/75) grandfather with OSA of which 36% (8/22) are obese. For grandmothers, 31% (23/75) have OSA and 22% (5/23) are obese with more being paternal (19%, 14/75) compared to maternal (12%, 9/75). Of the 73 total family members reported to have OSA, 86% (63/73) use PAP and most (65%, 41/63) use it for &gt; 4 hours every night. Few participants had siblings with OSA. Conclusion There were more fathers with OSA than mothers, but mothers were reported to be obese more often. Grandparents were reported to have OSA but were reported to be obese less often than parents. Maternal grandparents with OSA were reported to be obese more than paternal grandparents. The majority of family members with OSA who use CPAP report nightly use. Support (if any):

scholarly journals Familial Autoimmune Myasthenia Gravis: Four Patients Involving Three Generations

2000 ◽  
Vol 27 (4) ◽  
pp. 307-310 ◽  
Author(s):  
R.A. Marrie ◽  
D.J. Sahlas ◽  
G.M. Bray
Keyword(s):  
Myasthenia Gravis ◽  
Medical Records ◽  
Index Case ◽  
Family Members ◽  
Monozygotic Twins ◽  
Bulbar Symptoms ◽  
History Of ◽  
Autoimmune Myasthenia ◽  
Successive Generations ◽  
Receptor Antibodies

Background:Familial autoimmune myasthenia gravis (MG) is rare, although a genetic role for the development of autoimmune MG is suggested by concordance in monozygotic twins and the increased frequency of other autoimmune diseases in family members of myasthenics.Methods:A patient with a family history of MG was evaluated in hospital. Relatives were interviewed and medical records examined for details regarding the diagnosis of MG in three other family members.Results:The index case first experienced symptoms of MG at age 75 years. She developed generalized MG and required corticosteroids and immunosuppressive therapy to control her disease. Her father developed predominantly bulbar symptoms of MG at age 75 years. He died of complications experienced following a gastrostomy placed for continued difficulty swallowing. His brother developed similar symptoms of MG in his early 60s and died shortly after thymectomy. A 46-year-old nephew of the index case is also beginning to exhibit signs of generalized MG. Acetylcholine receptor antibodies were strongly positive in the index case and her nephew. (The assay was not available for her father and uncle).Conclusion:Four individuals in three successive generations had diagnoses of autoimmune MG. Study of familial cases such as these may clarify the contribution of genetic factors to the development of this disease.

Family History of Renal Stones in Recurrent Stone Patients

1985 ◽  
Vol 57 (4) ◽  
pp. 370-374 ◽  
Author(s):  
S. LJUNGHALL ◽  
B. G. DANIELSON ◽  
B. FELLSTRöM ◽  
K. HOLMGREN ◽  
G. JOHANSSON
Keyword(s):  
Family History ◽  
Renal Stones ◽  
History Of ◽  
Recurrent Stone

scholarly journals Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencing

2018 ◽  
Author(s):  
Brooke N. Wolford ◽  
Whitney E. Hornsby
Keyword(s):  
Family History ◽  
Aortic Dissection ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Family Members ◽  
Aortic Disease ◽  
Thoracic Aortic Dissection ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
History Of

ABSTRACTBackgroundThoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients or their family members.MethodsWe performed whole exome sequencing of 240 patients with thoracic aortic dissection (n=235) or rupture (n=5) and 258 controls matched for age, sex, and ancestry. Blinded to case-control status, we annotated variants in 11 genes for pathogenicity.ResultsTwenty-four pathogenic variants in 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, TGFBR2) were identified in 26 individuals, representing 10.8% of aortic cases and 0% of controls. Among dissection cases, we compared those with pathogenic variants to those without and found that pathogenic variant carriers had significantly earlier onset of dissection (41 vs. 57 years), higher rates of root aneurysm (54% vs. 30%), less hypertension (15% vs. 57%), lower rates of smoking (19% vs. 45%), and greater incidence of aortic disease in family members. Multivariable logistic regression showed significant risk factors associated with pathogenic variants are age <50 [odds ratio (OR) = 5.5; 95% CI: 1.6-19.7], no history of hypertension (OR=5.6; 95% CI: 1.4-22.3) and family history of aortic disease (mother: OR=5.7; 95% CI: 1.4-22.3, siblings: OR=5.1; 95% CI 1.1-23.9, children: OR=6.0; 95% CI: 1.4-26.7).ConclusionsClinical genetic testing of known hereditary thoracic aortic dissection genes should be considered in patients with aortic dissection, followed by cascade screening of family members, especially in patients with age-of-onset of aortic dissection <50 years old, family history of aortic disease, and no history of hypertension.

scholarly journals Family history of diabetes is associated with diabetic foot complications in type 2 diabetes

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Xiao-fen Xiong ◽  
Ling Wei ◽  
Ying Xiao ◽  
Ya-Chun Han ◽  
Jinfei Yang ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Multiple Regression ◽  
Diabetic Foot ◽  
Clinical Characteristics ◽  
Family Members ◽  
Family History Of Diabetes ◽  
Foot Complications ◽  
History Of

Abstract To investigate the relationship between diabetic foot complications (DFCs) and clinical characteristics, especially the number and types of first-degree family members with diabetes. A total of 8909 type 2 diabetes patients were enrolled. The clinical characteristics of these patients, including DFCs and family history of diabetes (FHD), were collected from medical records. Multiple regression was used to investigate the association between FHD and DFCs after adjusting for confounding factors. The patients with one and more than one first-degree family member with diabetes accounted for 18.7% and 12.8%, respectively. The proportions of the participants with a father with diabetes, a mother with diabetes, both parents with diabetes, siblings with diabetes, father and siblings with diabetes, mother and siblings with diabetes, and both parents and siblings with diabetes were 3.5%, 6.2%, 1.1%, 14.4%, 1.5%, 4%, and 0.7%, respectively. The multiple regression analysis showed that the number of family members with diabetes was positively associated with DFCs. However, among the different types of FHD, only the patients with a mother with diabetes showed a statistical association with DFCs. In addition to FHD, other factors, including gender, body mass index, platelet count, hemoglobin levels, albumin levels, high-density cholesterol levels, diabetic peripheral neuropathy, and the use of lipid-lowering agents, oral hypoglycemic agents, and insulin, were also associated with DFCs. DFCs were associated with different numbers of family members with diabetes and types of FHD. This association reveals the importance of genetic and environmental factors in DFCs and highlights the importance of adding FHD to public health strategies targeting detecting and preventing the disease.

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